A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030593



Internal ID19119812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:12183357..12250495hg38UCSC Ensembl
Innerchr5:12183469..12250607hg19UCSC Ensembl
Innerchr5:12236469..12303607hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3867139
hg1967139
hg1867139
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3638202
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030593
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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