A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456748



Internal ID15170127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:31329118..31405439hg38UCSC Ensembl
Innerchr15:31621321..31697642hg19UCSC Ensembl
Innerchr15:29408613..29484934hg18UCSC Ensembl
Innerchr15:29408613..29484934hg17UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg3876322
hg1976322
hg1876322
hg1776322
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534038
SamplesNINDS_124
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)nsv456748
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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