A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027342



Internal ID18769874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:65064844..65224787hg38UCSC Ensembl
Innerchr5:64360671..64520614hg19UCSC Ensembl
Innerchr5:64396427..64556370hg18UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38159944
hg19159944
hg18159944
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5693n100
Supporting Variantsnssv3747233
Samples
Known GenesADAMTS6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027342
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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