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dbVar

Database of genomic structural variation

nsv970719

Organism: Homo sapiens

Study:nstd82 (Sudmant et al. 2013)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:NCBI36 (hg18)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:75,106

Publication(s):Sudmant et al. 2013

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: 2651 SVs from 100 studies. See in: genome view

Remapped(Score: Perfect):78,253,014-78,328,119

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv970719	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	78,253,014	78,328,119
nsv970719	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	78,962,731	79,037,836
nsv970719	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000006.10	Chr6	79,019,450	79,094,555

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv2756829	deletion	HGDP00927	Sequencing	Read depth	1	17,185
nssv2760054	deletion	HGDP00998	Sequencing	Read depth	1	17,267

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv2756829	Remapped	Perfect	NC_000006.12:g.(?_ 78253014)_(7832811 9_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	78,253,014	78,328,119
nssv2760054	Remapped	Perfect	NC_000006.12:g.(?_ 78253014)_(7832811 9_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	78,253,014	78,328,119
nssv2756829	Remapped	Perfect	NC_000006.11:g.(?_ 78962731)_(7903783 6_?)del	GRCh37.p13	First Pass	NC_000006.11	Chr6	78,962,731	79,037,836
nssv2760054	Remapped	Perfect	NC_000006.11:g.(?_ 78962731)_(7903783 6_?)del	GRCh37.p13	First Pass	NC_000006.11	Chr6	78,962,731	79,037,836
nssv2756829	Submitted genomic		NC_000006.10:g.(?_ 79019450)_(7909455 5_?)del	NCBI36 (hg18)		NC_000006.10	Chr6	79,019,450	79,094,555
nssv2760054	Submitted genomic		NC_000006.10:g.(?_ 79019450)_(7909455 5_?)del	NCBI36 (hg18)		NC_000006.10	Chr6	79,019,450	79,094,555

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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