A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456078



Internal ID15169457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:95277634..95320242hg38UCSC Ensembl
Innerchr13:95929888..95972496hg19UCSC Ensembl
Innerchr13:94727889..94770497hg18UCSC Ensembl
Innerchr13:94727889..94770497hg17UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg3842609
hg1942609
hg1842609
hg1742609
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533486
SamplesHGDP00720
Known GenesABCC4
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)nsv456078
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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