A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027333



Internal ID19116552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:104453444..105513077hg38UCSC Ensembl
Innerchr5:103789145..104848778hg19UCSC Ensembl
Innerchr5:103817044..104876677hg18UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg381059634
hg191059634
hg181059634
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3645992, nssv3645990, nssv3645991
Samples
Known GenesRAB9BP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027333
Frequency
Sample Size11257
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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