A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016702



Internal ID18759237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:31200455..31471735hg38UCSC Ensembl
Innerchr5:31200562..31471842hg19UCSC Ensembl
Innerchr5:31236319..31507599hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38271281
hg19271281
hg18271281
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5619n100
Supporting Variantsnssv3636768
Samples
Known GenesCDH6, DROSHA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1016702
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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