A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6326951



Internal ID20860088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216190255..216201599hg38UCSC Ensembl
chr1:216363597..216374941hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3811345
hg1911345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18057284
Samples
Known GenesUSH2A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6326951
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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