A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538686



Internal ID15164012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176132836..176384132hg38UCSC Ensembl
Innerchr5:175559839..175811133hg19UCSC Ensembl
Innerchr5:175492445..175743739hg18UCSC Ensembl
Innerchr5:175492445..175743739hg17UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38251297
hg19251295
hg18251295
hg17251295
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462549
Supporting Variants
SamplesHGDP01285
Known GenesARL10, KIAA1191, LOC643201, NOP16, SIMC1
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv538686
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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