A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023142



Internal ID18765675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:64578799..64749903hg38UCSC Ensembl
Innerchr5:63874626..64045730hg19UCSC Ensembl
Innerchr5:63910382..64081486hg18UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38171105
hg19171105
hg18171105
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5692n100
Supporting Variantsnssv3640788
Samples
Known GenesFAM159B, RGS7BP, SREK1IP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1023142
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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