nsv514416

Organism: Homo sapiens

Study:nstd46 (Campbell et al. 2011)
Variant Type:copy number variation
Method Type:Oligo aCGH
Submitted on:NCBI36 (hg18)

Variant Calls:9
Validation:Not tested
Clinical Assertions: No
Region Size:10,221

Publication(s):Campbell et al. 2011

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 176 SVs from 57 studies. See in: genome view

Remapped(Score: Perfect):48,542,234-48,552,454

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv514416	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	48,542,234	48,552,454
nsv514416	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	48,581,830	48,592,050
nsv514416	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000007.12	Chr7	48,552,376	48,562,596

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv2948666	copy number loss	NA06986	Oligo aCGH	Probe signal intensity	1	484
nssv2948667	copy number loss	NA07056	Oligo aCGH	Probe signal intensity	1	470
nssv2948668	copy number loss	NA07347	Oligo aCGH	Probe signal intensity	1	487
nssv2948669	copy number loss	NA12376	Oligo aCGH	Probe signal intensity	1	450
nssv2948670	copy number loss	NA12489	Oligo aCGH	Probe signal intensity	1	447
nssv2948671	copy number loss	NA12815	Oligo aCGH	Probe signal intensity	1	447
nssv2948672	copy number loss	NA21390	Oligo aCGH	Probe signal intensity	1	469
nssv2948673	copy number loss	NA21635	Oligo aCGH	Probe signal intensity	1	429
nssv2948674	copy number loss	NA21636	Oligo aCGH	Probe signal intensity	1	431

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv2948666	Remapped	Perfect	NC_000007.14:g.(?_ 48542234)_(4855245 4_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	48,542,234	48,552,454
nssv2948667	Remapped	Perfect	NC_000007.14:g.(?_ 48542234)_(4855245 4_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	48,542,234	48,552,454
nssv2948668	Remapped	Perfect	NC_000007.14:g.(?_ 48542234)_(4855245 4_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	48,542,234	48,552,454
nssv2948669	Remapped	Perfect	NC_000007.14:g.(?_ 48542234)_(4855245 4_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	48,542,234	48,552,454
nssv2948670	Remapped	Perfect	NC_000007.14:g.(?_ 48542234)_(4855245 4_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	48,542,234	48,552,454
nssv2948671	Remapped	Perfect	NC_000007.14:g.(?_ 48542234)_(4855245 4_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	48,542,234	48,552,454
nssv2948672	Remapped	Perfect	NC_000007.14:g.(?_ 48542234)_(4855245 4_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	48,542,234	48,552,454
nssv2948673	Remapped	Perfect	NC_000007.14:g.(?_ 48542234)_(4855245 4_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	48,542,234	48,552,454
nssv2948674	Remapped	Perfect	NC_000007.14:g.(?_ 48542234)_(4855245 4_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	48,542,234	48,552,454
nssv2948666	Remapped	Perfect	NC_000007.13:g.(?_ 48581830)_(4859205 0_?)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	48,581,830	48,592,050
nssv2948667	Remapped	Perfect	NC_000007.13:g.(?_ 48581830)_(4859205 0_?)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	48,581,830	48,592,050
nssv2948668	Remapped	Perfect	NC_000007.13:g.(?_ 48581830)_(4859205 0_?)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	48,581,830	48,592,050
nssv2948669	Remapped	Perfect	NC_000007.13:g.(?_ 48581830)_(4859205 0_?)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	48,581,830	48,592,050
nssv2948670	Remapped	Perfect	NC_000007.13:g.(?_ 48581830)_(4859205 0_?)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	48,581,830	48,592,050
nssv2948671	Remapped	Perfect	NC_000007.13:g.(?_ 48581830)_(4859205 0_?)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	48,581,830	48,592,050
nssv2948672	Remapped	Perfect	NC_000007.13:g.(?_ 48581830)_(4859205 0_?)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	48,581,830	48,592,050
nssv2948673	Remapped	Perfect	NC_000007.13:g.(?_ 48581830)_(4859205 0_?)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	48,581,830	48,592,050
nssv2948674	Remapped	Perfect	NC_000007.13:g.(?_ 48581830)_(4859205 0_?)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	48,581,830	48,592,050
nssv2948666	Submitted genomic		NC_000007.12:g.(?_ 48552376)_(4856259 6_?)del	NCBI36 (hg18)		NC_000007.12	Chr7	48,552,376	48,562,596
nssv2948667	Submitted genomic		NC_000007.12:g.(?_ 48552376)_(4856259 6_?)del	NCBI36 (hg18)		NC_000007.12	Chr7	48,552,376	48,562,596
nssv2948668	Submitted genomic		NC_000007.12:g.(?_ 48552376)_(4856259 6_?)del	NCBI36 (hg18)		NC_000007.12	Chr7	48,552,376	48,562,596
nssv2948669	Submitted genomic		NC_000007.12:g.(?_ 48552376)_(4856259 6_?)del	NCBI36 (hg18)		NC_000007.12	Chr7	48,552,376	48,562,596
nssv2948670	Submitted genomic		NC_000007.12:g.(?_ 48552376)_(4856259 6_?)del	NCBI36 (hg18)		NC_000007.12	Chr7	48,552,376	48,562,596
nssv2948671	Submitted genomic		NC_000007.12:g.(?_ 48552376)_(4856259 6_?)del	NCBI36 (hg18)		NC_000007.12	Chr7	48,552,376	48,562,596
nssv2948672	Submitted genomic		NC_000007.12:g.(?_ 48552376)_(4856259 6_?)del	NCBI36 (hg18)		NC_000007.12	Chr7	48,552,376	48,562,596
nssv2948673	Submitted genomic		NC_000007.12:g.(?_ 48552376)_(4856259 6_?)del	NCBI36 (hg18)		NC_000007.12	Chr7	48,552,376	48,562,596
nssv2948674	Submitted genomic		NC_000007.12:g.(?_ 48552376)_(4856259 6_?)del	NCBI36 (hg18)		NC_000007.12	Chr7	48,552,376	48,562,596

dbVar

Database of genomic structural variation

nsv514416

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant