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dbVar

Database of genomic structural variation

nsv5907585

Organism: Homo sapiens

Study:nstd209 (Almarri et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:1,992

Publication(s):Almarri et al. 2020

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: 458 SVs from 52 studies. See in: genome view

Submitted genomic144,420,175-144,422,166

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5907585	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000008.11	Chr8	144,420,175	144,422,166
nsv5907585	Remapped	Good	GRCh37.p13	Primary Assembly	Second Pass	NC_000008.10	Chr8	145,645,559	145,647,549
nsv5907585	Remapped	Perfect	GRCh37.p13	PATCHES	First Pass	NW_003315924.1	Chr8\|NW_00 3315924.1	189,434	191,425

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17437071	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17437071	Submitted genomic		NC_000008.11:g.144 420175_144422166de l	GRCh38 (hg38)		NC_000008.11	Chr8	144,420,175	144,422,166
nssv17437071	Remapped	Perfect	NW_003315924.1:g.1 89434_191425del	GRCh37.p13	First Pass	NW_003315924.1	Chr8\|NW_00 3315924.1	189,434	191,425
nssv17437071	Remapped	Good	NC_000008.10:g.145 645559_145647549de l	GRCh37.p13	Second Pass	NC_000008.10	Chr8	145,645,559	145,647,549

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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