A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3642148



Internal ID18940429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:56954015..57138795hg38UCSC Ensembl
Innerchr5:56249842..56434622hg19UCSC Ensembl
Innerchr5:56285599..56470379hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38184781
hg19184781
hg18184781
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1023344
Supporting Variants
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)nssv3642148
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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