A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11704n54



Internal ID22779599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146528356..146567475hg38UCSC Ensembl
chr7:146225448..146264567hg19UCSC Ensembl
chr7:145856381..145895500hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3839120
hg1939120
hg1839120
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv608936, nsv608938, nsv608937, nsv608935
Samples1780854296_A, 1780862260_A, HGDP01058, 1780854393_A
Known GenesCNTNAP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11704n54
Frequency
Sample Size17421
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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