A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003016



Internal ID18745548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:66577437..66601436hg38UCSC Ensembl
Innerchr1:67043120..67067119hg19UCSC Ensembl
Innerchr1:66815708..66839707hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3824000
hg1924000
hg1824000
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv175n100
Supporting Variantsnssv3701250
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)nsv1003016
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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