A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023760



Internal ID18766293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:175993881..176211615hg38UCSC Ensembl
Innerchr5:175420884..175638618hg19UCSC Ensembl
Innerchr5:175353490..175571224hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38217735
hg19217735
hg18217735
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5833n100
Supporting Variantsnssv3746679
Samples
Known GenesFAM153B, LOC100507387, LOC100996385, LOC643201
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1023760
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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