A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11708n54



Internal ID19003884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147582083..147586250hg38UCSC Ensembl
chr7:147279175..147283342hg19UCSC Ensembl
chr7:146910108..146914275hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg384168
hg194168
hg184168
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv608956, nsv608957
Samples
Known GenesCNTNAP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11708n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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