A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1007952



Internal ID15955222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:137439562..137572207hg38UCSC Ensembl
Innerchr4:138360716..138493361hg19UCSC Ensembl
Innerchr4:138580166..138712811hg18UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38132646
hg19132646
hg18132646
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv595576
Supporting Variants
Samples
Known GenesPCDH18
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1007952
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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