A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462967



Internal ID15523032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:62359158..62463388hg38UCSC Ensembl
Innerchr6:63069063..63173293hg19UCSC Ensembl
Innerchr6:63127022..63231252hg18UCSC Ensembl
Innerchr6:63127022..63231252hg17UCSC Ensembl
Cytoband6q11.1
Allele length
AssemblyAllele length
hg38104231
hg19104231
hg18104231
hg17104231
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv539015
SamplesNINDS_125
Known Genes
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)nsv462967
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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