A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608933



Internal ID16396342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146495785..146557568hg38UCSC Ensembl
Innerchr7:146192877..146254660hg19UCSC Ensembl
Innerchr7:145823810..145885593hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3861784
hg1961784
hg1861784
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11703n54
Supporting Variantsnssv1155918
SamplesNINDS_197
Known GenesCNTNAP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608933
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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