A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017143



Internal ID19106360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146529206..146557568hg38UCSC Ensembl
Innerchr7:146226298..146254660hg19UCSC Ensembl
Innerchr7:145857231..145885593hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3828363
hg1928363
hg1828363
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6747n100
Supporting Variantsnssv3757716, nssv3674200, nssv3674198, nssv3674203, nssv3674206, nssv3674199, nssv3674207, nssv3674202, nssv3674204, nssv3674205, nssv3674201
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)nsv1017143
Frequency
Sample Size11257
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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