A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533307



Internal ID15512881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:22937442..24341413hg38UCSC Ensembl
Innerchr13:23511581..24915551hg19UCSC Ensembl
Innerchr13:22409581..23813551hg18UCSC Ensembl
Innerchr13:22409581..23813551hg17UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg381403972
hg191403971
hg181403971
hg171403971
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455837
Supporting Variants
SamplesNINDS_72
Known GenesANKRD20A19P, C1QTNF9, C1QTNF9B, C1QTNF9B-AS1, LINC00327, MIPEP, MIR2276, SACS, SACS-AS1, SGCG, SPATA13, SPATA13-AS1, TNFRSF19
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)nssv533307
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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