A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540114



Internal ID15162313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167158423..167420069hg38UCSC Ensembl
Innerchr6:167571911..167833557hg19UCSC Ensembl
Innerchr6:167491901..167753547hg18UCSC Ensembl
Innerchr6:167542322..167803968hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38261647
hg19261647
hg18261647
hg17261647
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464141
Supporting Variants
SamplesHGDP00929
Known GenesTCP10, TCP10L2, TTLL2, UNC93A
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)nssv540114
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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