A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538376



Internal ID15510381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:45303570..45409798hg38UCSC Ensembl
Innerchr5:45303672..45409900hg19UCSC Ensembl
Innerchr5:45339429..45445657hg18UCSC Ensembl
Innerchr5:45339429..45445657hg17UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38106229
hg19106229
hg18106229
hg17106229
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462131
Supporting Variants
SamplesHGDP01238
Known GenesHCN1
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)nssv538376
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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