A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6750n100



Internal ID19017118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147004988..147091121hg38UCSC Ensembl
chr7:146702080..146788213hg19UCSC Ensembl
chr7:146333013..146419146hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3886134
hg1986134
hg1886134
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1015266, nsv1029646
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)dgv6750n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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