A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013476



Internal ID18756007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:66578947..66600228hg38UCSC Ensembl
Innerchr1:67044630..67065911hg19UCSC Ensembl
Innerchr1:66817218..66838499hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3821282
hg1921282
hg1821282
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv175n100
Supporting Variantsnssv3476501
Samples
Known GenesSGIP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013476
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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