A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11703n54



Internal ID19003879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146491965..146577335hg38UCSC Ensembl
chr7:146189057..146274427hg19UCSC Ensembl
chr7:145819990..145905360hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3885371
hg1985371
hg1885371
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv608934, nsv608933, nsv608931
SamplesNINDS_197
Known GenesCNTNAP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11703n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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