A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3645989



Internal ID18944270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:104453444..105346688hg38UCSC Ensembl
Innerchr5:103789145..104682389hg19UCSC Ensembl
Innerchr5:103817044..104710288hg18UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg38893245
hg19893245
hg18893245
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1022638
Supporting Variants
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)nssv3645989
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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