A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600341



Internal ID16041064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176132836..176384132hg38UCSC Ensembl
Innerchr5:175559839..175811133hg19UCSC Ensembl
Innerchr5:175492445..175743739hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38251297
hg19251295
hg18251295
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1154718
SamplesHGDP01285
Known GenesARL10, KIAA1191, LOC643201, NOP16, SIMC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600341
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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