A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007717



Internal ID19096936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:239203849..239238990hg38UCSC Ensembl
Innerchr2:240125545..240160686hg19UCSC Ensembl
Innerchr2:239790482..239825623hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3835142
hg1935142
hg1835142
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4196n100
Supporting Variantsnssv3586974
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)nsv1007717
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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