A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462842



Internal ID15176221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31387541..31491965hg38UCSC Ensembl
Innerchr6:31355318..31459742hg19UCSC Ensembl
Innerchr6:31463297..31567721hg18UCSC Ensembl
Innerchr6:31463297..31567721hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38104425
hg19104425
hg18104425
hg17104425
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv747n27
Supporting Variantsnssv538924
SamplesHGDP01212
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)nsv462842
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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