A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020929



Internal ID18763463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:6915328..7193289hg38UCSC Ensembl
Innerchr7:6954959..7232920hg19UCSC Ensembl
Innerchr7:6921484..7199445hg18UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38277962
hg19277962
hg18277962
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3752818
Samples
Known GenesC1GALT1, LOC100131257
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020929
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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