A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022547



Internal ID18765081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146529206..146927317hg38UCSC Ensembl
Innerchr7:146226298..146624409hg19UCSC Ensembl
Innerchr7:145857231..146255342hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38398112
hg19398112
hg18398112
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3674214
Samples
Known GenesCNTNAP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1022547
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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