A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6329781



Internal ID20862934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:88977461..88980672hg38UCSC Ensembl
chr1:89443144..89446355hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg383212
hg193212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18064900
Samples
Known GenesCCBL2, RBMXL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6329781
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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