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dbVar

Database of genomic structural variation

nsv1122263

Organism: Homo sapiens

Study:nstd106 (Alsmadi et al. 2014)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:71,752

Publication(s):Alsmadi et al. 2014

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: 456 SVs from 37 studies. See in: genome view

Remapped(Score: Pass):50,209,449-50,281,200

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv1122263	Remapped	Pass	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	50,209,449	50,281,200
nsv1122263	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	49,974,100	50,024,200

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv3969709	deletion	KWS2	Sequencing	Read depth and paired-end mapping	21,718
nssv3995058	deletion	KWS1	Sequencing	Read depth and paired-end mapping	22,470

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv3969709	Remapped	Pass	NC_000023.11:g.(50 209449_?)_(?_50281 200)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	50,209,449	50,281,200
nssv3995058	Remapped	Pass	NC_000023.11:g.(50 209449_?)_(?_50281 200)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	50,209,449	50,281,200
nssv3969709	Submitted genomic		NC_000023.10:g.(49 974100_?)_(?_50024 200)del	GRCh37 (hg19)		NC_000023.10	ChrX	49,974,100	50,024,200
nssv3995058	Submitted genomic		NC_000023.10:g.(49 974100_?)_(?_50024 200)del	GRCh37 (hg19)		NC_000023.10	ChrX	49,974,100	50,024,200

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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