A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014546



Internal ID19103764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:242037177..242147293hg38UCSC Ensembl
Innerchr2:242979328..243089444hg19UCSC Ensembl
Innerchr2:242628001..242738117hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38110117
hg19110117
hg18110117
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4214n100
Supporting Variantsnssv3589895
Samples
Known GenesLOC728323
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014546
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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