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dbVar

Database of genomic structural variation

nsv5948375

Organism: Homo sapiens

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

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

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

Submitted genomic125,034,192-125,034,192

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5948375	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000003.12	Chr3	125,034,192	125,034,192
nsv5948375	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	124,753,036	124,753,036

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17408504	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17408504	Submitted genomic		NC_000003.12:g.125 034192_125034193in s50	GRCh38 (hg38)		NC_000003.12	Chr3	125,034,192	125,034,192
nssv17408504	Remapped	Perfect	NC_000003.11:g.124 753036_124753037in s50	GRCh37.p13	First Pass	NC_000003.11	Chr3	124,753,036	124,753,036

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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