A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537613



Internal ID15161723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:6254762..6301627hg38UCSC Ensembl
Innerchr4:6256489..6303354hg19UCSC Ensembl
Innerchr4:6307390..6354255hg18UCSC Ensembl
Innerchr4:6374561..6421426hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3846866
hg1946866
hg1846866
hg1746866
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461186
Supporting Variants
SamplesHGDP00817
Known GenesWFS1
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)nssv537613
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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