A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6430072



Internal ID21087625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148333225..148347054hg38UCSC Ensembl
chr7:148030317..148044146hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3813830
hg1913830
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18224687
Samples
Known GenesCNTNAP2, MIR548T
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6430072
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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