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dbVar

Database of genomic structural variation

nsv7439

Organism: Homo sapiens

Study:nstd2 (Kidd et al. 2008)
Variant Type:inversion
Method Type:Sequencing
Submitted on:NCBI35 (hg17)

Variant Calls:2
Validation:Yes
Clinical Assertions: No
Region Size:82,109

Publication(s):Kidd et al. 2008

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: 580 SVs from 54 studies. See in: genome view

Remapped(Score: Good):45,648,559-45,730,667

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Outer Stop
nsv7439	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	45,648,559	-	45,730,667
nsv7439	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	45,507,804	-	45,590,156
nsv7439	Remapped	Pass	GRCh37.p13	PATCHES	Second Pass	NW_004070879.1	ChrX\|NW_00 4070879.1	-	1	55,332
nsv7439	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000023.8	ChrX	45,264,058	-	45,346,410

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv3778	inversion	NA12878	Sequencing	Paired-end mapping	1,451
nssv10699	inversion	NA18956	Sequencing	Paired-end mapping	905

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Outer Stop
nssv3778	Remapped	Perfect	NC_000023.11:g.(45 648559_?)_(?_45691 534)inv	GRCh38.p12	First Pass	NC_000023.11	ChrX	45,648,559	-	45,691,534
nssv10699	Remapped	Good	NC_000023.11:g.(?_ 45691228)_(?_45730 667)inv	GRCh38.p12	First Pass	NC_000023.11	ChrX	-	45,691,228	45,730,667
nssv10699	Remapped	Pass	NW_004070879.1:g.( ?_17333)_(?_55332) inv	GRCh37.p13	Second Pass	NW_004070879.1	ChrX\|NW_00 4070879.1	-	17,333	55,332
nssv3778	Remapped	Perfect	NC_000023.10:g.(45 507804_?)_(?_45550 779)inv	GRCh37.p13	First Pass	NC_000023.10	ChrX	45,507,804	-	45,550,779
nssv10699	Remapped	Perfect	NC_000023.10:g.(45 548844_?)_(?_45590 156)inv	GRCh37.p13	First Pass	NC_000023.10	ChrX	45,548,844	-	45,590,156
nssv3778	Submitted genomic		NC_000023.8:g.(452 64058_?)_(?_453070 33)inv	NCBI35 (hg17)		NC_000023.8	ChrX	45,264,058	-	45,307,033
nssv10699	Submitted genomic		NC_000023.8:g.(453 05098_?)_(?_453464 10)inv	NCBI35 (hg17)		NC_000023.8	ChrX	45,305,098	-	45,346,410

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
nssv10699	3	NA18956	Multiple complete digestion	MCD analysis	Pass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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