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dbVar

Database of genomic structural variation

nsv511030

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:61,473

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

Remapped(Score: Perfect):23,958,567-24,020,039

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Stop	Outer Stop
nsv511030	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	23,958,567	-	24,020,039
nsv511030	Remapped	Pass	GRCh38.p12	PATCHES	Second Pass	NW_018654722.1	Chr14\|NW_0 18654722.1	259,546	316,310	-
nsv511030	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	24,427,776	-	24,489,248
nsv511030	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000014.7	Chr14	23,497,616	-	23,559,088

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv621627	complex substitution	GM15510	Optical mapping	Optical mapping	1,740
nssv622403	inversion	GM10860	Optical mapping	Optical mapping	1,998

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Stop	Outer Stop
nssv621627	Remapped	Pass		GRCh38.p12	Second Pass	NW_018654722.1	Chr14\|NW_0 18654722.1	259,546	316,310	-
nssv622403	Remapped	Pass	NW_018654722.1:g.( 259546_?)_(316310_ ?)inv	GRCh38.p12	Second Pass	NW_018654722.1	Chr14\|NW_0 18654722.1	259,546	316,310	-
nssv621627	Remapped	Perfect		GRCh38.p12	First Pass	NC_000014.9	Chr14	23,958,567	-	24,020,039
nssv622403	Remapped	Perfect	NC_000014.9:g.(239 58567_?)_(?_240200 39)inv	GRCh38.p12	First Pass	NC_000014.9	Chr14	23,958,567	-	24,020,039
nssv621627	Remapped	Perfect		GRCh37.p13	First Pass	NC_000014.8	Chr14	24,427,776	-	24,489,248
nssv622403	Remapped	Perfect	NC_000014.8:g.(244 27776_?)_(?_244892 48)inv	GRCh37.p13	First Pass	NC_000014.8	Chr14	24,427,776	-	24,489,248
nssv621627	Submitted genomic			NCBI35 (hg17)		NC_000014.7	Chr14	23,497,616	-	23,559,088
nssv622403	Submitted genomic		NC_000014.7:g.(234 97616_?)_(?_235590 88)inv	NCBI35 (hg17)		NC_000014.7	Chr14	23,497,616	-	23,559,088

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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