A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466077



Internal ID8493124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:2137725..2157934hg38UCSC Ensembl
Innerchr9:2137725..2157934hg19UCSC Ensembl
Innerchr9:2127725..2147934hg18UCSC Ensembl
Innerchr9:2127725..2147934hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg3820210
hg1920210
hg1820210
hg1720210
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541713
SamplesNINDS_104
Known GenesSMARCA2
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)nsv466077
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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