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dbVar

Database of genomic structural variation

nsv3168590

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:173,561

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: 1066 SVs from 82 studies. See in: genome view

Remapped(Score: Perfect):45,728,169-45,902,147

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3168590	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	45,728,378 (-209, +209)	45,901,938 (-209, +209)
nsv3168590	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	44,357,017 (-209, +209)	44,530,577 (-209, +209)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14239751	duplication	DB56	Sequencing	Paired-end mapping	34

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14239751	Remapped	Perfect	NC_000020.11:g.(45 728169_45728587)_( 45901729_45902147) dup	GRCh38.p12	First Pass	NC_000020.11	Chr20	45,728,378 (-209, +209)	45,901,938 (-209, +209)
nssv14239751	Submitted genomic		NC_000020.10:g.(44 356808_44357226)_( 44530368_44530786) dup	GRCh37 (hg19)		NC_000020.10	Chr20	44,357,017 (-209, +209)	44,530,577 (-209, +209)

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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