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dbVar

Database of genomic structural variation

nsv5979315

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:29,936

Description:DESC=[BREAKPOINT2]
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: 423 SVs from 48 studies. See in: genome view

Submitted genomic73,063,667-73,093,602

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5979315	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000023.11	ChrX	73,063,667	73,093,602
nsv5979315	Remapped	Perfect	GRCh37.p13	Primary Assembly	Second Pass	NC_000023.10	ChrX	72,283,506	72,313,441
nsv5979315	Remapped	Perfect	GRCh37.p13	PATCHES	First Pass	NW_004070882.1	ChrX\|NW_00 4070882.1	752,684	782,619

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17452313	inversion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17452313	Submitted genomic		NC_000023.11:g.730 63667_73093602inv	GRCh38 (hg38)		NC_000023.11	ChrX	73,063,667	73,093,602
nssv17452313	Remapped	Perfect	NW_004070882.1:g.7 52684_782619inv	GRCh37.p13	First Pass	NW_004070882.1	ChrX\|NW_00 4070882.1	752,684	782,619
nssv17452313	Remapped	Perfect	NC_000023.10:g.722 83506_72313441inv	GRCh37.p13	Second Pass	NC_000023.10	ChrX	72,283,506	72,313,441

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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