A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455965



Internal ID15516030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:69188929..69200965hg38UCSC Ensembl
Innerchr13:69763061..69775097hg19UCSC Ensembl
Innerchr13:68661062..68673098hg18UCSC Ensembl
Innerchr13:68661062..68673098hg17UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3812037
hg1912037
hg1812037
hg1712037
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv231n27
Supporting Variantsnssv533410
SamplesNINDS_142
Known Genes
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)nsv455965
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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