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dbVar

Database of genomic structural variation

nsv2757896

Organism: Homo sapiens

Study:nstd130 (Leppa et al. 2016)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37 (hg19)

Variant Calls:4
Validation:Not tested
Clinical Assertions: No
Region Size:78,751

Publication(s):Leppa et al. 2016

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: 1550 SVs from 90 studies. See in: genome view

Remapped(Score: Perfect):39,446,634-39,525,384

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv2757896	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	39,446,634	39,525,384
nsv2757896	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	39,304,153	39,382,903

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv13634585	deletion	SNP array	Probe signal intensity
nssv13634586	deletion	SNP array	Probe signal intensity
nssv13634587	deletion	SNP array	Probe signal intensity
nssv13634588	duplication	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
nssv13634585	Remapped	Perfect	NC_000008.11:g.(?_ 39446634)_(3952538 4_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	39,446,634	39,525,384
nssv13634586	Remapped	Perfect	NC_000008.11:g.(?_ 39446634)_(3952538 4_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	39,446,634	39,525,384
nssv13634587	Remapped	Perfect	NC_000008.11:g.(?_ 39446634)_(3952538 4_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	39,446,634	39,525,384
nssv13634588	Remapped	Perfect	NC_000008.11:g.(?_ 39446634)_(3952538 4_?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	39,446,634	39,525,384
nssv13634585	Submitted genomic		NC_000008.10:g.(?_ 39304153)_(3938290 3_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	39,304,153	39,382,903
nssv13634586	Submitted genomic		NC_000008.10:g.(?_ 39304153)_(3938290 3_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	39,304,153	39,382,903
nssv13634587	Submitted genomic		NC_000008.10:g.(?_ 39304153)_(3938290 3_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	39,304,153	39,382,903
nssv13634588	Submitted genomic		NC_000008.10:g.(?_ 39304153)_(3938290 3_?)dup	GRCh37 (hg19)		NC_000008.10	Chr8	39,304,153	39,382,903

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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