A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542123



Internal ID15505851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:133752170..133793694hg38UCSC Ensembl
Innerchr9:136617292..136658816hg19UCSC Ensembl
Innerchr9:135607113..135648637hg18UCSC Ensembl
Innerchr9:133646846..133688370hg17UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg3841525
hg1941525
hg1841525
hg1741525
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466622
Supporting Variants
SamplesHGDP00244
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)nssv542123
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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