A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998473



Internal ID19158009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:81976082..82083682hg38UCSC Ensembl
Innerchr2:82203206..82310806hg19UCSC Ensembl
Innerchr2:82056717..82164317hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38107601
hg19107601
hg18107601
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3884n100
Supporting Variantsnssv3732013, nssv3582139, nssv3582138
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)nsv998473
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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