A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462823



Internal ID15176202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31387541..31483132hg38UCSC Ensembl
Innerchr6:31355318..31450909hg19UCSC Ensembl
Innerchr6:31463297..31558888hg18UCSC Ensembl
Innerchr6:31463297..31558888hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3895592
hg1995592
hg1895592
hg1795592
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv747n27
Supporting Variantsnssv538908
SamplesHGDP00945
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)nsv462823
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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