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dbVar

Database of genomic structural variation

nsv5980323

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: 106 SVs from 30 studies. See in: genome view

Submitted genomic9,997,181-9,997,181

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5980323	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000021.9	Chr21	9,997,181	9,997,181
nsv5980323	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000021.8	Chr21	10,475,209	10,475,209

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17397729	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17397729	Submitted genomic		NC_000021.9:g.9997 181_9997182ins120	GRCh38 (hg38)		NC_000021.9	Chr21	9,997,181	9,997,181
nssv17397729	Remapped	Perfect	NC_000021.8:g.1047 5209_10475210ins12 0	GRCh37.p13	First Pass	NC_000021.8	Chr21	10,475,209	10,475,209

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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