A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456206



Internal ID15516271
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533572
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)nsv456206
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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