A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462641



Internal ID15176020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:14203641..14764752hg38UCSC Ensembl
Innerchr6:14203872..14764983hg19UCSC Ensembl
Innerchr6:14311851..14872962hg18UCSC Ensembl
Innerchr6:14311851..14872962hg17UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg38561112
hg19561112
hg18561112
hg17561112
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538748
Samples1780862226_A
Known GenesLINC01108
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)nsv462641
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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