A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542142



Internal ID15157596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:135247660..135414214hg38UCSC Ensembl
Innerchr9:138139506..138306060hg19UCSC Ensembl
Innerchr9:137279327..137445881hg18UCSC Ensembl
Innerchr9:135365451..135532005hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38166555
hg19166555
hg18166555
hg17166555
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466643
Supporting Variants
Samples1782681087_A
Known GenesC9orf62
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)nssv542142
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer