A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6758n100



Internal ID20158374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152070390..152305071hg38UCSC Ensembl
chr7:151767475..152002156hg19UCSC Ensembl
chr7:151398408..151633089hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38234682
hg19234682
hg18234682
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1032435, nsv1025281, nsv1019164
Samples
Known GenesGALNT11, KMT2C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6758n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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