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dbVar

Database of genomic structural variation

nsv3169349

Organism: Homo sapiens

Study:nstd158 (Cleal et al. 2019)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:196,538

Publication(s):Cleal et al. 2019

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: 792 SVs from 70 studies. See in: genome view

Remapped(Score: Perfect):137,831,958-138,028,535

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3169349	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	137,831,978 (-20, +20)	138,028,515 (-20, +20)
nsv3169349	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	138,844,221 (-20, +20)	139,040,758 (-20, +20)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14239579	duplication	DB45	Sequencing	Paired-end mapping	24

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14239579	Remapped	Perfect	NC_000008.11:g.(13 7831958_137831998) _(138028495_138028 535)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	137,831,978 (-20, +20)	138,028,515 (-20, +20)
nssv14239579	Submitted genomic		NC_000008.10:g.(13 8844201_138844241) _(139040738_139040 778)dup	GRCh37 (hg19)		NC_000008.10	Chr8	138,844,221 (-20, +20)	139,040,758 (-20, +20)

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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