Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv4904632

Organism: Homo sapiens

Study:nstd200 (Abel 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:372,982

Publication(s):Abel 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: 3543 SVs from 115 studies. See in: genome view

Submitted genomic248,339,421-248,712,442

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4904632	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	248,339,432 (-11, +11)	248,712,413 (-5, +29)
nsv4904632	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	248,502,734 (-11, +11)	248,865,778 (-5, +29)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16434402	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16434402	Submitted genomic		NC_000001.11:g.(24 8339421_248339443) _(248712408_248712 442)dup	GRCh38 (hg38)		NC_000001.11	Chr1	248,339,432 (-11, +11)	248,712,413 (-5, +29)
nssv16434402	Remapped	Good	NC_000001.10:g.(24 8502723_248502745) _(248865773_248865 807)dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	248,502,734 (-11, +11)	248,865,778 (-5, +29)

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv16434402	<0.001	3	29246

You are here: NCBI