A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542124



Internal ID15503724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:133890468..133897110hg38UCSC Ensembl
Innerchr9:136755590..136762232hg19UCSC Ensembl
Innerchr9:135745411..135752053hg18UCSC Ensembl
Innerchr9:133785144..133791786hg17UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg386643
hg196643
hg186643
hg176643
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466623
Supporting Variants
Samples1780862403_A
Known GenesVAV2
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)nssv542124
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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