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dbVar

Database of genomic structural variation

nsv592824

Organism: Homo sapiens

Study:nstd54 (Cooper et al. 2011)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI36 (hg18)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:12,015

Publication(s):Cooper 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: 473 SVs from 79 studies. See in: genome view

Remapped(Score: Perfect):191,343,425-191,355,439

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv592824	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	191,343,425	191,355,439
nsv592824	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	191,061,214	191,073,228
nsv592824	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000003.10	Chr3	192,543,908	192,555,922

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv1152289	copy number gain	NINDS_50	SNP array	SNP genotyping analysis	13
nssv1152290	copy number loss	NINDS_232	SNP array	SNP genotyping analysis	6

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv1152289	Remapped	Perfect	NC_000003.12:g.(?_ 191343425)_(191355 439_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	191,343,425	191,355,439
nssv1152290	Remapped	Perfect	NC_000003.12:g.(?_ 191343425)_(191355 439_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	191,343,425	191,355,439
nssv1152289	Remapped	Perfect	NC_000003.11:g.(?_ 191061214)_(191073 228_?)dup	GRCh37.p13	First Pass	NC_000003.11	Chr3	191,061,214	191,073,228
nssv1152290	Remapped	Perfect	NC_000003.11:g.(?_ 191061214)_(191073 228_?)del	GRCh37.p13	First Pass	NC_000003.11	Chr3	191,061,214	191,073,228
nssv1152289	Submitted genomic		NC_000003.10:g.(?_ 192543908)_(192555 922_?)dup	NCBI36 (hg18)		NC_000003.10	Chr3	192,543,908	192,555,922
nssv1152290	Submitted genomic		NC_000003.10:g.(?_ 192543908)_(192555 922_?)del	NCBI36 (hg18)		NC_000003.10	Chr3	192,543,908	192,555,922

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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