A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020543



Internal ID18763078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:13811845..13981496hg38UCSC Ensembl
Innerchr7:13851470..14021121hg19UCSC Ensembl
Innerchr7:13817995..13987646hg18UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg38169652
hg19169652
hg18169652
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3643149
Samples
Known GenesETV1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020543
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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