A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538236



Internal ID15504874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:5840573..5857441hg38UCSC Ensembl
Innerchr5:5840686..5857554hg19UCSC Ensembl
Innerchr5:5893686..5910554hg18UCSC Ensembl
Innerchr5:5893686..5910554hg17UCSC Ensembl
Cytoband5p15.32
Allele length
AssemblyAllele length
hg3816869
hg1916869
hg1816869
hg1716869
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461920
Supporting Variants
Samples1798860565_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)nssv538236
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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