A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608927



Internal ID16049650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146106003..146184909hg38UCSC Ensembl
Innerchr7:145803095..145882001hg19UCSC Ensembl
Innerchr7:145434028..145512934hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3878907
hg1978907
hg1878907
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1097935
Samples
Known GenesCNTNAP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608927
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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