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dbVar

Database of genomic structural variation

nsv442508

Organism: Homo sapiens

Study:nstd22 (McCarroll et al. 2008)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI35 (hg17)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:2,385

Publication(s):McCarroll et al. 2008

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: 494 SVs from 49 studies. See in: genome view

Remapped(Score: Perfect):49,314,134-49,316,518

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv442508	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	49,314,134	49,316,518
nsv442508	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000022.10	Chr22	49,710,059	49,712,443
nsv442508	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000022.8	Chr22	48,030,920	48,033,304

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv1660664	copy number loss	NA18555	SNP array	Probe signal intensity	1	172
nssv1660665	copy number loss	NA18912	SNP array	Probe signal intensity	1	171

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv1660664	Remapped	Perfect	NC_000022.11:g.(?_ 49314134)_(4931651 8_?)del	GRCh38.p12	First Pass	NC_000022.11	Chr22	49,314,134	49,316,518
nssv1660665	Remapped	Perfect	NC_000022.11:g.(?_ 49314134)_(4931651 8_?)del	GRCh38.p12	First Pass	NC_000022.11	Chr22	49,314,134	49,316,518
nssv1660664	Remapped	Perfect	NC_000022.10:g.(?_ 49710059)_(4971244 3_?)del	GRCh37.p13	First Pass	NC_000022.10	Chr22	49,710,059	49,712,443
nssv1660665	Remapped	Perfect	NC_000022.10:g.(?_ 49710059)_(4971244 3_?)del	GRCh37.p13	First Pass	NC_000022.10	Chr22	49,710,059	49,712,443
nssv1660664	Submitted genomic		NC_000022.8:g.(?_4 8030920)_(48033304 _?)del	NCBI35 (hg17)		NC_000022.8	Chr22	48,030,920	48,033,304
nssv1660665	Submitted genomic		NC_000022.8:g.(?_4 8030920)_(48033304 _?)del	NCBI35 (hg17)		NC_000022.8	Chr22	48,030,920	48,033,304

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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