A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536920



Internal ID15164994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:2053858..2744818hg38UCSC Ensembl
Innerchr3:2095542..2786502hg19UCSC Ensembl
Innerchr3:2070542..2761502hg18UCSC Ensembl
Innerchr3:2070542..2761502hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38690961
hg19690961
hg18690961
hg17690961
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460324
Supporting Variants
SamplesNINDS_129
Known GenesCNTN4, CNTN4-AS2
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)nssv536920
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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