A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456747



Internal ID15170126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:31245293..31345793hg38UCSC Ensembl
Innerchr15:31537496..31637996hg19UCSC Ensembl
Innerchr15:29324788..29425288hg18UCSC Ensembl
Innerchr15:29324788..29425288hg17UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg38100501
hg19100501
hg18100501
hg17100501
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534037
Samples1780862540_A
Known GenesKLF13
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)nsv456747
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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