A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051961



Internal ID18794492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:55868436..56235643hg38UCSC Ensembl
Innerchr12:56262220..56629427hg19UCSC Ensembl
Innerchr12:54548487..54915694hg18UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg38367208
hg19367208
hg18367208
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523600
Samples
Known GenesCDK2, DGKA, ERBB3, ESYT1, IKZF4, MYL6, MYL6B, NABP2, PA2G4, PMEL, RAB5B, RNF41, RPL41, RPS26, SLC39A5, SMARCC2, SUOX, WIBG, ZC3H10
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051961
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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