A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6612264



Internal ID20985335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:4874909..5107051hg38UCSC Ensembl
chr7:4914540..5146682hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38232143
hg19232143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18155516
Samples
Known GenesMMD2, RADIL, RBAK, RBAKDN, RBAK-RBAKDN, RNF216P1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6612264
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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