A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466397



Internal ID15179776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:68959841..69228107hg38UCSC Ensembl
Innerchr9:71574757..71843023hg19UCSC Ensembl
Innerchr9:70764577..71032843hg18UCSC Ensembl
Innerchr9:68804311..69072577hg17UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg38268267
hg19268267
hg18268267
hg17268267
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541947
Samples1798860277_A
Known GenesFXN, PIP5K1B, PRKACG, TJP2
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)nsv466397
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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