A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608952



Internal ID16396361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:147314549..147315579hg38UCSC Ensembl
Innerchr7:147011641..147012671hg19UCSC Ensembl
Innerchr7:146642574..146643604hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381031
hg191031
hg181031
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11706n54
Supporting Variantsnssv1098070
Samples
Known GenesCNTNAP2, MIR548I4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608952
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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