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dbVar

Database of genomic structural variation

nsv5943065

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:344

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: 72 SVs from 17 studies. See in: genome view

Submitted genomic23,300,158-23,300,501

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5943065	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	23,300,158	23,300,501
nsv5943065	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	23,769,367	23,769,710

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17376433	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17376433	Submitted genomic		NC_000014.9:g.2330 0158_23300501del	GRCh38 (hg38)		NC_000014.9	Chr14	23,300,158	23,300,501
nssv17376433	Remapped	Perfect	NC_000014.8:g.2376 9367_23769710del	GRCh37.p13	First Pass	NC_000014.8	Chr14	23,769,367	23,769,710

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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