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

dbVar

Database of genomic structural variation

nsv4948535

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:300,622

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

Submitted genomic145,932,520-146,233,308

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4948535	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	145,932,624 (-104, +2)	146,233,245 (-2, +63)
nsv4948535	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	146,853,776 (-104, +2)	147,154,397 (-2, +63)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16474437	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16474437	Submitted genomic		NC_000004.12:g.(14 5932520_145932626) _(146233243_146233 308)dup	GRCh38 (hg38)		NC_000004.12	Chr4	145,932,624 (-104, +2)	146,233,245 (-2, +63)
nssv16474437	Remapped	Perfect	NC_000004.11:g.(14 6853672_146853778) _(147154395_147154 460)dup	GRCh37.p13	First Pass	NC_000004.11	Chr4	146,853,776 (-104, +2)	147,154,397 (-2, +63)

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)
nssv16474437	<0.001	1	29246

You are here: NCBI