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dbVar

Database of genomic structural variation

nsv510692

Organism: Homo sapiens

Study:nstd49 (Teague et al. 2010)
Variant Type:copy number variation
Method Type:Optical mapping
Submitted on:NCBI35 (hg17)

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:71,111

Publication(s):Teague et al. 2010

Links to Other Resources

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: 408 SVs from 68 studies. See in: genome view

Remapped(Score: Perfect):80,398,600-80,469,710

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv510692	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	80,398,600	80,469,710
nsv510692	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	80,432,497	80,503,607
nsv510692	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000016.8	Chr16	78,989,998	79,061,108

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Other Calls in this Sample and Study
nssv617426	deletion	CHM	Optical mapping	Optical mapping	Hydatidiform Mole	not provided	Submitter	1,350

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv617426	Remapped	Perfect	NC_000016.10:g.(80 398600_?)_(?_80469 710)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	80,398,600	80,469,710
nssv617426	Remapped	Perfect	NC_000016.9:g.(804 32497_?)_(?_805036 07)del	GRCh37.p13	First Pass	NC_000016.9	Chr16	80,432,497	80,503,607
nssv617426	Submitted genomic		NC_000016.8:g.(789 89998_?)_(?_790611 08)del6500	NCBI35 (hg17)		NC_000016.8	Chr16	78,989,998	79,061,108

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Sample ID	HGVS	Type	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Gender	Other Calls in this Sample and Study
nssv617426	CHM	NCBI35: NC_000016.8:g.(78989998_?)_(?_79061108)del6500	deletion	Hydatidiform Mole	not provided	Submitter	Female	1,350

No genotype data were submitted for this variant

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