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dbVar

Database of genomic structural variation

nsv7043854

Organism: Homo sapiens

Study:nstd229 (Jun et al. 2023)
Variant Type:inversion
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:8,085

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: 153 SVs from 31 studies. See in: genome view

Submitted genomic126,569,239-126,577,323

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7043854	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000005.10	Chr5	126,569,239	126,577,323
nsv7043854	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	125,904,931	125,913,015

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18777275	inversion	Sequencing	Split read and paired-end mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18777275	Submitted genomic		NC_000005.10:g.126 569239_126577323in v	GRCh38 (hg38)		NC_000005.10	Chr5	126,569,239	126,577,323
nssv18777275	Remapped	Perfect	NC_000005.9:g.1259 04931_125913015inv	GRCh37.p13	First Pass	NC_000005.9	Chr5	125,904,931	125,913,015

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv18777275	4e-06	1	276268

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