A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024540



Internal ID18767072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:147408057..147441033hg38UCSC Ensembl
Innerchr7:147105149..147138125hg19UCSC Ensembl
Innerchr7:146736082..146769058hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3832977
hg1932977
hg1832977
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3757720, nssv3674233, nssv3674232
Samples
Known GenesCNTNAP2, MIR548I4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1024540
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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