A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538375



Internal ID15504700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:44876186..44916687hg38UCSC Ensembl
Innerchr5:44876288..44916789hg19UCSC Ensembl
Innerchr5:44912045..44952546hg18UCSC Ensembl
Innerchr5:44912045..44952546hg17UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3840502
hg1940502
hg1840502
hg1740502
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462129
Supporting Variants
Samples1798860072_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)nssv538375
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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