A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999204



Internal ID19158740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:81969821..82087496hg38UCSC Ensembl
Innerchr2:82196945..82314620hg19UCSC Ensembl
Innerchr2:82050456..82168131hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38117676
hg19117676
hg18117676
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3884n100
Supporting Variantsnssv3582137, nssv3582136
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)nsv999204
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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