A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3486574



Internal ID19074215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:105069720..105254221hg38UCSC Ensembl
Innerchr1:105612342..105796843hg19UCSC Ensembl
Innerchr1:105413865..105598366hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38184502
hg19184502
hg18184502
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1006105
Supporting Variants
Samples
Known GenesMIR548H3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3486574
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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