A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034703



Internal ID18777236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71095346..71699868hg38UCSC Ensembl
Innerchr5:70391173..70995695hg19UCSC Ensembl
Innerchr5:70426929..71031451hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38604523
hg19604523
hg18604523
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3641066
Samples
Known GenesBDP1, GUSBP9, MCCC2, NAIP, PMCHL2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1034703
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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