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dbVar

Database of genomic structural variation

nsv442501

Organism: Homo sapiens

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

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:159,010

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: 464 SVs from 59 studies. See in: genome view

Remapped(Score: Perfect):15,327,978-15,486,987

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv442501	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	15,327,978	15,486,987
nsv442501	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000022.10	Chr22	16,490,976	16,649,985
nsv442501	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000022.8	Chr22	14,865,530	15,024,539

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv1660627	copy number loss	NA18862	SNP array	Probe signal intensity	1	183
nssv1660628	copy number loss	NA18978	SNP array	Probe signal intensity	1	162
nssv1660629	copy number loss	NA19207	SNP array	Probe signal intensity	1	149

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv1660627	Remapped	Perfect	NC_000022.11:g.(?_ 15327978)_(1548698 7_?)del	GRCh38.p12	First Pass	NC_000022.11	Chr22	15,327,978	15,486,987
nssv1660628	Remapped	Perfect	NC_000022.11:g.(?_ 15327978)_(1548698 7_?)del	GRCh38.p12	First Pass	NC_000022.11	Chr22	15,327,978	15,486,987
nssv1660629	Remapped	Perfect	NC_000022.11:g.(?_ 15327978)_(1548698 7_?)del	GRCh38.p12	First Pass	NC_000022.11	Chr22	15,327,978	15,486,987
nssv1660627	Remapped	Perfect	NC_000022.10:g.(?_ 16490976)_(1664998 5_?)del	GRCh37.p13	First Pass	NC_000022.10	Chr22	16,490,976	16,649,985
nssv1660628	Remapped	Perfect	NC_000022.10:g.(?_ 16490976)_(1664998 5_?)del	GRCh37.p13	First Pass	NC_000022.10	Chr22	16,490,976	16,649,985
nssv1660629	Remapped	Perfect	NC_000022.10:g.(?_ 16490976)_(1664998 5_?)del	GRCh37.p13	First Pass	NC_000022.10	Chr22	16,490,976	16,649,985
nssv1660627	Submitted genomic		NC_000022.8:g.(?_1 4865530)_(15024539 _?)del	NCBI35 (hg17)		NC_000022.8	Chr22	14,865,530	15,024,539
nssv1660628	Submitted genomic		NC_000022.8:g.(?_1 4865530)_(15024539 _?)del	NCBI35 (hg17)		NC_000022.8	Chr22	14,865,530	15,024,539
nssv1660629	Submitted genomic		NC_000022.8:g.(?_1 4865530)_(15024539 _?)del	NCBI35 (hg17)		NC_000022.8	Chr22	14,865,530	15,024,539

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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