A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542120



Internal ID15512815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:133639476..133654580hg38UCSC Ensembl
Innerchr9:136504598..136519702hg19UCSC Ensembl
Innerchr9:135494419..135509523hg18UCSC Ensembl
Innerchr9:133534152..133549256hg17UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg3815105
hg1915105
hg1815105
hg1715105
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466618
Supporting Variants
SamplesNINDS_66
Known GenesDBH
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)nssv542120
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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