A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462940



Internal ID15523005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:45564477..45578238hg38UCSC Ensembl
Innerchr6:45532214..45545975hg19UCSC Ensembl
Innerchr6:45640192..45653953hg18UCSC Ensembl
Innerchr6:45640192..45653953hg17UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3813762
hg1913762
hg1813762
hg1713762
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538994
Samples1780862378_A
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)nsv462940
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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