A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3712576



Internal ID19010857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:83668637..83896685hg38UCSC Ensembl
Innerchr12:84062416..84290464hg19UCSC Ensembl
Innerchr12:82586547..82814595hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38228049
hg19228049
hg18228049
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1049383
Supporting Variants
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)nssv3712576
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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