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dbVar

Database of genomic structural variation

nsv5609206

Organism: Homo sapiens

Study:nstd207 (Ebert et al. 2021)
Variant Type:insertion
Method Type:Sequencing
Submitted on:GRCh38

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

Publication(s):Ebert et al. 2021

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: 131 SVs from 29 studies. See in: genome view

Submitted genomic44,753,596-44,753,596

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5609206	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	44,753,596	44,753,596
nsv5609206	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	45,219,268	45,219,268

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17065807	insertion	HG02492	Sequencing	Sequence alignment	982

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17065807	Submitted genomic		NC_000001.11:g.447 53596_44753597ins1 27	GRCh38 (hg38)		NC_000001.11	Chr1	44,753,596	44,753,596
nssv17065807	Remapped	Perfect	NC_000001.10:g.452 19268_45219269ins1 27	GRCh37.p13	First Pass	NC_000001.10	Chr1	45,219,268	45,219,268

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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