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dbVar

Database of genomic structural variation

nsv510952

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:22,990

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: 402 SVs from 58 studies. See in: genome view

Remapped(Score: Perfect):166,268,075-166,291,064

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Stop	Outer Stop
nsv510952	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	166,268,075	-	166,291,064
nsv510952	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187557.1	Chr6\|NT_18 7557.1	47,495	64,718	-
nsv510952	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	166,681,563	-	166,704,552
nsv510952	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000006.9	Chr6	166,651,974	-	166,674,963

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
nssv618655	complex substitution	CHM	Optical mapping	Optical mapping	Hydatidiform Mole	not provided	Submitter	1,350

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Stop	Outer Stop
nssv618655	Remapped	Pass	GRCh38.p12	Second Pass	NT_187557.1	Chr6\|NT_18 7557.1	47,495	64,718	-
nssv618655	Remapped	Perfect	GRCh38.p12	First Pass	NC_000006.12	Chr6	166,268,075	-	166,291,064
nssv618655	Remapped	Perfect	GRCh37.p13	First Pass	NC_000006.11	Chr6	166,681,563	-	166,704,552
nssv618655	Submitted genomic		NCBI35 (hg17)		NC_000006.9	Chr6	166,651,974	-	166,674,963

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
nssv618655	CHM	complex substitution	Hydatidiform Mole	not provided	Submitter	Female	1,350

No genotype data were submitted for this variant

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