A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6612921



Internal ID20985992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:148344921..148349429hg38UCSC Ensembl
chr6:148666057..148670565hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg384509
hg194509
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18141220
Samples
Known GenesSASH1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6612921
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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