A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466385



Internal ID15179764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:35662254..35705089hg38UCSC Ensembl
Innerchr9:35662251..35705086hg19UCSC Ensembl
Innerchr9:35652251..35695086hg18UCSC Ensembl
Innerchr9:35652251..35695086hg17UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg3842836
hg1942836
hg1842836
hg1742836
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541939
SamplesNINDS_65
Known GenesARHGEF39, CA9, TLN1, TPM2
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)nsv466385
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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