A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014488



Internal ID19103706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:239187328..239223680hg38UCSC Ensembl
Innerchr2:240109024..240145376hg19UCSC Ensembl
Innerchr2:239773961..239810313hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3836353
hg1936353
hg1836353
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4195n100
Supporting Variantsnssv3586972
Samples
Known GenesHDAC4, MGC16025
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014488
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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