A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017548



Internal ID18760082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:118940784..119022699hg38UCSC Ensembl
Innerchr5:118276479..118358394hg19UCSC Ensembl
Innerchr5:118304378..118386293hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3881916
hg1981916
hg1881916
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3746598
Samples
Known GenesDTWD2, MIR1244-1, MIR1244-2, MIR1244-3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1017548
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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