A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462926



Internal ID15176305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:42089587..42131633hg38UCSC Ensembl
Innerchr6:42057325..42099371hg19UCSC Ensembl
Innerchr6:42165303..42207349hg18UCSC Ensembl
Innerchr6:42165303..42207349hg17UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3842047
hg1942047
hg1842047
hg1742047
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv753n27
Supporting Variantsnssv538983
SamplesNINDS_65
Known GenesC6orf132
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)nsv462926
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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