A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001856



Internal ID19091073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:239209548..239244959hg38UCSC Ensembl
Innerchr2:240131244..240166655hg19UCSC Ensembl
Innerchr2:239796181..239831592hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3835412
hg1935412
hg1835412
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4196n100
Supporting Variantsnssv3586975
Samples
Known GenesHDAC4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001856
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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