A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6749n100



Internal ID19017117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147002554..147059329hg38UCSC Ensembl
chr7:146699646..146756421hg19UCSC Ensembl
chr7:146330579..146387354hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3856776
hg1956776
hg1856776
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1033175, nsv1029188
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)dgv6749n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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