A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005506



Internal ID18748037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:815775..1386702hg38UCSC Ensembl
Innerchr3:857458..1428386hg19UCSC Ensembl
Innerchr3:832458..1403386hg18UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38570928
hg19570929
hg18570929
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4617n100
Supporting Variantsnssv3590284, nssv3590285
Samples
Known GenesCNTN6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005506
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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