A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608939



Internal ID16049662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146635861..146767873hg38UCSC Ensembl
Innerchr7:146332953..146464965hg19UCSC Ensembl
Innerchr7:145963886..146095898hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38132013
hg19132013
hg18132013
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1097948
Samples
Known GenesCNTNAP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608939
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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