A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6433624



Internal ID21091177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:51864201..51866300hg38UCSC Ensembl
chr8:52776761..52778860hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg382100
hg192100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18168271
Samples
Known GenesPCMTD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6433624
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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