A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538599



Internal ID15501911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:121600538..121696680hg38UCSC Ensembl
Innerchr5:120936233..121032375hg19UCSC Ensembl
Innerchr5:120964132..121060274hg18UCSC Ensembl
Innerchr5:120964132..121060274hg17UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3896143
hg1996143
hg1896143
hg1796143
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462433
Supporting Variants
Samples1780846321_A
Known Genes
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)nssv538599
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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