A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028223



Internal ID19117441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146529206..146570165hg38UCSC Ensembl
Innerchr7:146226298..146267257hg19UCSC Ensembl
Innerchr7:145857231..145898190hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3840960
hg1940960
hg1840960
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6748n100
Supporting Variantsnssv3674212
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)nsv1028223
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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