A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000390



Internal ID18742921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:64116727..64285152hg38UCSC Ensembl
Innerchr2:64343861..64512286hg19UCSC Ensembl
Innerchr2:64197365..64365790hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38168426
hg19168426
hg18168426
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3861n100
Supporting Variantsnssv3577269, nssv3577268, nssv3577270, nssv3577267
Samples
Known GenesLINC00309, PELI1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000390
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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