A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018053



Internal ID19107270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:12540928..12593371hg38UCSC Ensembl
Innerchr7:12580554..12632996hg19UCSC Ensembl
Innerchr7:12547079..12599521hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3852444
hg1952443
hg1852443
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3642984
Samples
Known GenesSCIN
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1018053
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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