A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538964



Internal ID15155484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:34760476..34918659hg38UCSC Ensembl
Innerchr6:34728253..34886436hg19UCSC Ensembl
Innerchr6:34836231..34994414hg18UCSC Ensembl
Innerchr6:34836231..34994414hg17UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg38158184
hg19158184
hg18158184
hg17158184
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462905
Supporting Variants
Samples1780854206_A
Known GenesANKS1A, SNRPC, TAF11, UHRF1BP1
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)nssv538964
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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