A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004404



Internal ID19093622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:81976082..82093303hg38UCSC Ensembl
Innerchr2:82203206..82320427hg19UCSC Ensembl
Innerchr2:82056717..82173938hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38117222
hg19117222
hg18117222
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3884n100
Supporting Variantsnssv3582154, nssv3582153, nssv3582152, nssv3582155
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)nsv1004404
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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