A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533572



Internal ID15506415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:35609510..35696212hg38UCSC Ensembl
Innerchr14:36078716..36165418hg19UCSC Ensembl
Innerchr14:35148467..35235169hg18UCSC Ensembl
Innerchr14:35148467..35235169hg17UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg3886703
hg1986703
hg1886703
hg1786703
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456206
Supporting Variants
SamplesHGDP00475
Known GenesRALGAPA1, RALGAPA1P
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)nssv533572
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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