A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005536



Internal ID19094753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:59394636..59432362hg38UCSC Ensembl
Innerchr2:59621771..59659497hg19UCSC Ensembl
Innerchr2:59475275..59513001hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3837727
hg1937727
hg1837727
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3858n100
Supporting Variantsnssv3577241, nssv3577240
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005536
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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