A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464668



Internal ID15178047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:105448246..105568045hg38UCSC Ensembl
Innerchr7:105088693..105208492hg19UCSC Ensembl
Innerchr7:104875929..104995728hg18UCSC Ensembl
Innerchr7:104682644..104802443hg17UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg38119800
hg19119800
hg18119800
hg17119800
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540544
SamplesHGDP00791
Known GenesEFCAB10, PUS7, RINT1
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)nsv464668
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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