A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6614996



Internal ID20988067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:4804554..5031149hg38UCSC Ensembl
chr7:4844185..5070780hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38226596
hg19226596
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18155459
Samples
Known GenesMMD2, PAPOLB, RADIL, RNF216P1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6614996
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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