A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542108



Internal ID15166161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:130491981..130520222hg38UCSC Ensembl
Innerchr9:133367368..133395609hg19UCSC Ensembl
Innerchr9:132357189..132385430hg18UCSC Ensembl
Innerchr9:130396922..130425163hg17UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg3828242
hg1928242
hg1828242
hg1728242
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466600
Supporting Variants
SamplesNINDS_70
Known GenesASS1
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)nssv542108
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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