A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6422951



Internal ID21080504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:145372871..147326114hg38UCSC Ensembl
chr7:145069964..147023206hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381953244
hg191953243
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18153207
Samples
Known GenesCNTNAP2, MIR548AQ, MIR548AR, MIR548I4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6422951
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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