A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538715



Internal ID15159690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:181006880..181180883hg38UCSC Ensembl
Innerchr5:180433880..180607883hg19UCSC Ensembl
Innerchr5:180366486..180540489hg18UCSC Ensembl
Innerchr5:180366486..180540489hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38174004
hg19174004
hg18174004
hg17174004
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462589
Supporting Variants
SamplesHGDP00472
Known GenesBTNL9, MIR8089, OR2V1, OR2V2
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)nssv538715
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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