A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002590



Internal ID18745122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:87023361..87661069hg38UCSC Ensembl
Innerchr2:87250484..87960588hg19UCSC Ensembl
Innerchr2:87103995..87741703hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38637709
hg19710105
hg18637709
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3888n100
Supporting Variantsnssv3728715, nssv3582175, nssv3728714
Samples
Known GenesLINC00152, LOC285074, MIR4435-1, MIR4435-2, MIR4771-1, MIR4771-2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002590
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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