A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542127



Internal ID15503568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:133942648..133970221hg38UCSC Ensembl
Innerchr9:136807770..136835343hg19UCSC Ensembl
Innerchr9:135797591..135825164hg18UCSC Ensembl
Innerchr9:133837324..133864897hg17UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg3827574
hg1927574
hg1827574
hg1727574
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466626
Supporting Variants
Samples1780862345_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)nssv542127
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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