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dbVar

Database of genomic structural variation

nsv5943419

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:294

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: 98 SVs from 26 studies. See in: genome view

Submitted genomic47,712,585-47,712,878

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5943419	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	47,712,585	47,712,878
nsv5943419	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	48,215,842	48,216,135

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17390192	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17390192	Submitted genomic		NC_000019.10:g.477 12585_47712878del	GRCh38 (hg38)		NC_000019.10	Chr19	47,712,585	47,712,878
nssv17390192	Remapped	Perfect	NC_000019.9:g.4821 5842_48216135del	GRCh37.p13	First Pass	NC_000019.9	Chr19	48,215,842	48,216,135

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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