A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1003369



Internal ID15950639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:95054319..95249288hg38UCSC Ensembl
Innerchr4:95975470..96170439hg19UCSC Ensembl
Innerchr4:96194493..96389462hg18UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg38194970
hg19194970
hg18194970
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv594907
Supporting Variants
Samples
Known GenesBMPR1B, UNC5C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1003369
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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