A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538034



Internal ID15161080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:144023955..144135334hg38UCSC Ensembl
Innerchr4:144945108..145056487hg19UCSC Ensembl
Innerchr4:145164558..145275937hg18UCSC Ensembl
Innerchr4:145302713..145414092hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38111380
hg19111380
hg18111380
hg17111380
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461673
Supporting Variants
SamplesHGDP00711
Known GenesGYPA
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)nssv538034
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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