A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534397



Internal ID15165547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:51562521..51684962hg38UCSC Ensembl
Innerchr15:51854718..51977159hg19UCSC Ensembl
Innerchr15:49642010..49764451hg18UCSC Ensembl
Innerchr15:49642010..49764451hg17UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38122442
hg19122442
hg18122442
hg17122442
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457139
Supporting Variants
SamplesNINDS_219
Known GenesDMXL2, SCG3
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)nssv534397
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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