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dbVar

Database of genomic structural variation

nsv510525

Organism: Homo sapiens

Study:nstd49 (Teague et al. 2010)
Variant Type:sequence alteration
Method Type:Optical mapping
Submitted on:NCBI35 (hg17)

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:6,001

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: 466 SVs from 25 studies. See in: genome view

Remapped(Score: Perfect):12,577,066-12,583,066

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv510525	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	12,577,066	12,583,066
nsv510525	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	12,595,185	12,601,185
nsv510525	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000023.8	ChrX	12,354,842	12,360,842

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
nssv618470	sequence alteration	CHM	Optical mapping	Optical mapping	Hydatidiform Mole	not provided	Submitter	1,350
nssv622187	sequence alteration	GM10860	Optical mapping	Optical mapping				1,998

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv618470	Remapped	Perfect	GRCh38.p12	First Pass	NC_000023.11	ChrX	12,577,066	12,583,066
nssv622187	Remapped	Perfect	GRCh38.p12	First Pass	NC_000023.11	ChrX	12,577,066	12,583,066
nssv618470	Remapped	Perfect	GRCh37.p13	First Pass	NC_000023.10	ChrX	12,595,185	12,601,185
nssv622187	Remapped	Perfect	GRCh37.p13	First Pass	NC_000023.10	ChrX	12,595,185	12,601,185
nssv618470	Submitted genomic		NCBI35 (hg17)		NC_000023.8	ChrX	12,354,842	12,360,842
nssv622187	Submitted genomic		NCBI35 (hg17)		NC_000023.8	ChrX	12,354,842	12,360,842

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Sample ID	Type	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Gender	Other Calls in this Sample and Study
nssv618470	CHM	sequence alteration	Hydatidiform Mole	not provided	Submitter	Female	1,350

No genotype data were submitted for this variant

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