A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534527



Internal ID15161851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:828324..1202441hg38UCSC Ensembl
Innerchr16:878324..1252441hg19UCSC Ensembl
Innerchr16:818325..1192442hg18UCSC Ensembl
Innerchr16:818325..1192442hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38374118
hg19374118
hg18374118
hg17374118
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457315
Supporting Variants
SamplesHGDP00860
Known GenesC1QTNF8, CACNA1H, LMF1, SOX8, SSTR5, SSTR5-AS1
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)nssv534527
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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