A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608940



Internal ID16049663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146670701..146963832hg38UCSC Ensembl
Innerchr7:146367793..146660924hg19UCSC Ensembl
Innerchr7:145998726..146291857hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38293132
hg19293132
hg18293132
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1097949
Samples
Known GenesCNTNAP2, MIR548AQ, MIR548AR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608940
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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