A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1097948



Internal ID15951134
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 StatusS
Merged Variantsnsv608939
Supporting Variants
Samples
Known GenesCNTNAP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1097948
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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