A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538378



Internal ID15503969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:45364773..45456975hg38UCSC Ensembl
Innerchr5:45364875..45457077hg19UCSC Ensembl
Innerchr5:45400632..45492834hg18UCSC Ensembl
Innerchr5:45400632..45492834hg17UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3892203
hg1992203
hg1892203
hg1792203
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462134
Supporting Variants
Samples1780862470_A
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)nssv538378
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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