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dbVar

Database of genomic structural variation

nsv510963

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:118,026

Publication(s):Teague et al. 2010

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: 745 SVs from 91 studies. See in: genome view

Remapped(Score: Good):65,555,794-65,673,819

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Stop	Outer Stop
nsv510963	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	65,555,794	-	65,673,819
nsv510963	Remapped	Pass	GRCh37.p13	Primary Assembly	Second Pass	NC_000007.13	Chr7	65,020,707	65,092,425	-
nsv510963	Remapped	Pass	GRCh37.p13	PATCHES	First Pass	NW_004775430.1	Chr7\|NW_00 4775430.1	8,625	80,343	-
nsv510963	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000007.11	Chr7	64,464,857	-	64,582,917

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv621599	inversion	GM15510	Optical mapping	Optical mapping	1,740
nssv624317	complex substitution	GM18994	Optical mapping	Optical mapping	1,936

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Stop	Outer Stop
nssv621599	Remapped	Good	NC_000007.14:g.(65 555794_?)_(?_65647 037)inv	GRCh38.p12	First Pass	NC_000007.14	Chr7	65,555,794	-	65,647,037
nssv624317	Remapped	Good		GRCh38.p12	First Pass	NC_000007.14	Chr7	65,569,183	-	65,673,819
nssv621599	Remapped	Pass	NW_004775430.1:g.( 8625_?)_(80343_?)i nv	GRCh37.p13	First Pass	NW_004775430.1	Chr7\|NW_00 4775430.1	8,625	80,343	-
nssv624317	Remapped	Pass		GRCh37.p13	First Pass	NW_004775430.1	Chr7\|NW_00 4775430.1	22,014	80,343	-
nssv621599	Remapped	Pass	NC_000007.13:g.(65 020707_?)_(6509242 5_?)inv	GRCh37.p13	Second Pass	NC_000007.13	Chr7	65,020,707	65,092,425	-
nssv624317	Remapped	Pass		GRCh37.p13	Second Pass	NC_000007.13	Chr7	65,034,096	65,092,425	-
nssv621599	Submitted genomic		NC_000007.11:g.(64 464857_?)_(?_64556 101)inv	NCBI35 (hg17)		NC_000007.11	Chr7	64,464,857	-	64,556,101
nssv624317	Submitted genomic			NCBI35 (hg17)		NC_000007.11	Chr7	64,478,246	-	64,582,917

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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