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dbVar

Database of genomic structural variation

nsv1121944

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:59,255

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: 208 SVs from 36 studies. See in: genome view

Remapped(Score: Pass):81,741,970-81,801,224

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv1121944	Remapped	Pass	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	81,741,970	81,801,224
nsv1121944	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	79,709,000	79,759,100

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv3981085	deletion	KWS1	Sequencing	Read depth and paired-end mapping	22,470
nssv3989857	deletion	KWS2	Sequencing	Read depth and paired-end mapping	21,718

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv3981085	Remapped	Pass	NC_000017.11:g.(81 741970_?)_(?_81801 224)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	81,741,970	81,801,224
nssv3989857	Remapped	Pass	NC_000017.11:g.(81 741970_?)_(?_81801 224)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	81,741,970	81,801,224
nssv3981085	Submitted genomic		NC_000017.10:g.(79 709000_?)_(?_79759 100)del	GRCh37 (hg19)		NC_000017.10	Chr17	79,709,000	79,759,100
nssv3989857	Submitted genomic		NC_000017.10:g.(79 709000_?)_(?_79759 100)del	GRCh37 (hg19)		NC_000017.10	Chr17	79,709,000	79,759,100

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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