A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608930



Internal ID16396339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146328417..146384360hg38UCSC Ensembl
Innerchr7:146025509..146081452hg19UCSC Ensembl
Innerchr7:145656442..145712385hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3855944
hg1955944
hg1855944
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11702n54
Supporting Variantsnssv1097938
Samples
Known GenesCNTNAP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608930
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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