A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456789



Internal ID15170168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:33742220..34134417hg38UCSC Ensembl
Innerchr15:34034421..34426618hg19UCSC Ensembl
Innerchr15:31821713..32213910hg18UCSC Ensembl
Innerchr15:31821713..32213910hg17UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38392198
hg19392198
hg18392198
hg17392198
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534069
SamplesHGDP01215
Known GenesAVEN, CHRM5, EMC7, PGBD4, RYR3
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)nsv456789
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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