A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466269



Internal ID15179648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:17165700..17710409hg38UCSC Ensembl
Innerchr9:17165698..17710407hg19UCSC Ensembl
Innerchr9:17155698..17700407hg18UCSC Ensembl
Innerchr9:17155698..17700407hg17UCSC Ensembl
Cytoband9p22.2
Allele length
AssemblyAllele length
hg38544710
hg19544710
hg18544710
hg17544710
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541861
SamplesHGDP00635
Known GenesCNTLN, SH3GL2
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)nsv466269
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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