A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461929



Internal ID15521994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:8467787..8664635hg38UCSC Ensembl
Innerchr5:8467900..8664747hg19UCSC Ensembl
Innerchr5:8520900..8717747hg18UCSC Ensembl
Innerchr5:8520900..8717747hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38196849
hg19196848
hg18196848
hg17196848
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538239
SamplesHGDP01297
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)nsv461929
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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