A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461963



Internal ID15522028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:9902228..9924385hg38UCSC Ensembl
Innerchr5:9902340..9924497hg19UCSC Ensembl
Innerchr5:9955340..9977497hg18UCSC Ensembl
Innerchr5:9955340..9977497hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3822158
hg1922158
hg1822158
hg1722158
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv690n27
Supporting Variantsnssv538270
SamplesHGDP00632
Known GenesLOC285692
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)nsv461963
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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