A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608936



Internal ID16396345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146528356..146560229hg38UCSC Ensembl
Innerchr7:146225448..146257321hg19UCSC Ensembl
Innerchr7:145856381..145888254hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3831874
hg1931874
hg1831874
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11704n54
Supporting Variantsnssv1155922
Samples1780854393_A
Known GenesCNTNAP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608936
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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