A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028694



Internal ID18771225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:185446588..185601799hg38UCSC Ensembl
Innerchr4:186367742..186522953hg19UCSC Ensembl
Innerchr4:186604736..186759947hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38155212
hg19155212
hg18155212
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5493n100
Supporting Variantsnssv3635616
Samples
Known GenesC4orf47, CCDC110, PDLIM3, SORBS2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028694
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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