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dbVar

Database of genomic structural variation

nsv1349876

Organism: Homo sapiens

Study:nstd122 (Duyzend et al. 2015)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI36 (hg18)

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:133,160

Publication(s):Duyzend et al. 2015

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: 1427 SVs from 80 studies. See in: genome view

Remapped(Score: Perfect):57,861,227-57,994,386

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv1349876	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	57,861,227	57,994,386
nsv1349876	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	57,920,933	58,054,092
nsv1349876	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000007.12	Chr7	57,924,875	58,058,034

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv7833481	copy number loss	SNP array	Probe signal intensity
nssv7833482	copy number loss	SNP array	Probe signal intensity
nssv7833483	copy number loss	SNP array	Probe signal intensity
nssv7833484	copy number loss	SNP array	Probe signal intensity
nssv8349200	copy number gain	SNP array	Probe signal intensity

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv7833481	Remapped	Perfect	NC_000007.14:g.(?_ 57861227)_(5799438 6_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	57,861,227	57,994,386
nssv7833482	Remapped	Perfect	NC_000007.14:g.(?_ 57861227)_(5799438 6_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	57,861,227	57,994,386
nssv7833483	Remapped	Perfect	NC_000007.14:g.(?_ 57861227)_(5799438 6_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	57,861,227	57,994,386
nssv7833484	Remapped	Perfect	NC_000007.14:g.(?_ 57861227)_(5799438 6_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	57,861,227	57,994,386
nssv8349200	Remapped	Perfect	NC_000007.14:g.(?_ 57861227)_(5799438 6_?)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	57,861,227	57,994,386
nssv7833481	Remapped	Perfect	NC_000007.13:g.(?_ 57920933)_(5805409 2_?)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	57,920,933	58,054,092
nssv7833482	Remapped	Perfect	NC_000007.13:g.(?_ 57920933)_(5805409 2_?)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	57,920,933	58,054,092
nssv7833483	Remapped	Perfect	NC_000007.13:g.(?_ 57920933)_(5805409 2_?)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	57,920,933	58,054,092
nssv7833484	Remapped	Perfect	NC_000007.13:g.(?_ 57920933)_(5805409 2_?)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	57,920,933	58,054,092
nssv8349200	Remapped	Perfect	NC_000007.13:g.(?_ 57920933)_(5805409 2_?)dup	GRCh37.p13	First Pass	NC_000007.13	Chr7	57,920,933	58,054,092
nssv7833481	Submitted genomic		NC_000007.12:g.(?_ 57924875)_(5805803 4_?)del	NCBI36 (hg18)		NC_000007.12	Chr7	57,924,875	58,058,034
nssv7833482	Submitted genomic		NC_000007.12:g.(?_ 57924875)_(5805803 4_?)del	NCBI36 (hg18)		NC_000007.12	Chr7	57,924,875	58,058,034
nssv7833483	Submitted genomic		NC_000007.12:g.(?_ 57924875)_(5805803 4_?)del	NCBI36 (hg18)		NC_000007.12	Chr7	57,924,875	58,058,034
nssv7833484	Submitted genomic		NC_000007.12:g.(?_ 57924875)_(5805803 4_?)del	NCBI36 (hg18)		NC_000007.12	Chr7	57,924,875	58,058,034
nssv8349200	Submitted genomic		NC_000007.12:g.(?_ 57924875)_(5805803 4_?)dup	NCBI36 (hg18)		NC_000007.12	Chr7	57,924,875	58,058,034

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

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