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dbVar

Database of genomic structural variation

nsv510903

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:109,483

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: 499 SVs from 77 studies. See in: genome view

Remapped(Score: Perfect):108,292,448-108,401,930

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv510903	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	108,292,448	108,401,930
nsv510903	Remapped	Good	GRCh38.p12	PATCHES	Second Pass	NW_017852928.1	Chr1\|NW_01 7852928.1	304,447	413,777
nsv510903	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	108,835,070	108,944,552
nsv510903	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000001.8	Chr1	108,547,112	108,656,594

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv624360	inversion	GM18994	Optical mapping	Optical mapping	1,936
nssv621653	complex substitution	GM15510	Optical mapping	Optical mapping	1,740

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv624360	Remapped	Good	NW_017852928.1:g.( 304447_?)_(?_41377 7)inv3977	GRCh38.p12	Second Pass	NW_017852928.1	Chr1\|NW_01 7852928.1	304,447	413,777
nssv621653	Remapped	Good		GRCh38.p12	Second Pass	NW_017852928.1	Chr1\|NW_01 7852928.1	307,899	362,743
nssv624360	Remapped	Perfect	NC_000001.11:g.(10 8292448_?)_(?_1084 01930)inv3977	GRCh38.p12	First Pass	NC_000001.11	Chr1	108,292,448	108,401,930
nssv621653	Remapped	Perfect		GRCh38.p12	First Pass	NC_000001.11	Chr1	108,343,467	108,398,479
nssv624360	Remapped	Perfect	NC_000001.10:g.(10 8835070_?)_(?_1089 44552)inv3977	GRCh37.p13	First Pass	NC_000001.10	Chr1	108,835,070	108,944,552
nssv621653	Remapped	Perfect		GRCh37.p13	First Pass	NC_000001.10	Chr1	108,886,089	108,941,101
nssv624360	Submitted genomic		NC_000001.8:g.(108 547112_?)_(?_10865 6594)inv3977	NCBI35 (hg17)		NC_000001.8	Chr1	108,547,112	108,656,594
nssv621653	Submitted genomic			NCBI35 (hg17)		NC_000001.8	Chr1	108,598,131	108,653,143

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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