A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6748n100



Internal ID19017116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146529206..146572624hg38UCSC Ensembl
chr7:146226298..146269716hg19UCSC Ensembl
chr7:145857231..145900649hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3843419
hg1943419
hg1843419
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1028223, nsv1028701
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)dgv6748n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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