A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462854



Internal ID15176233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31392612..31489801hg38UCSC Ensembl
Innerchr6:31360389..31457578hg19UCSC Ensembl
Innerchr6:31468368..31565557hg18UCSC Ensembl
Innerchr6:31468368..31565557hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3897190
hg1997190
hg1897190
hg1797190
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538935
SamplesNINDS_192
Known GenesHCG26, HCP5, MICA
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)nsv462854
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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