A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022638



Internal ID19111856
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 StatusM
Merged Variants
Supporting Variantsnssv3645989
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)nsv1022638
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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