A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538650



Internal ID15155960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:159884897..159921891hg38UCSC Ensembl
Innerchr5:159311904..159348898hg19UCSC Ensembl
Innerchr5:159244482..159281476hg18UCSC Ensembl
Innerchr5:159244482..159281476hg17UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3836995
hg1936995
hg1836995
hg1736995
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462500
Supporting Variants
Samples1780854479_A
Known GenesADRA1B
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)nssv538650
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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