A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456120



Internal ID15169499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:110627655..110657270hg38UCSC Ensembl
Innerchr13:111280002..111309617hg19UCSC Ensembl
Innerchr13:110078003..110107618hg18UCSC Ensembl
Innerchr13:110078003..110107618hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3829616
hg1929616
hg1829616
hg1729616
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533523
SamplesNINDS_111
Known GenesCARKD, CARS2
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)nsv456120
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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