A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534418



Internal ID15161703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:58125696..58165308hg38UCSC Ensembl
Innerchr15:58417895..58457507hg19UCSC Ensembl
Innerchr15:56205187..56244799hg18UCSC Ensembl
Innerchr15:56205187..56244799hg17UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg3839613
hg1939613
hg1839613
hg1739613
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457172
Supporting Variants
SamplesHGDP00814
Known GenesAQP9
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)nssv534418
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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