A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6061204



Internal ID21970437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:51886313..51886313hg38UCSC Ensembl
chr8:52798873..52798873hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17583398
Samples
Known GenesPCMTD1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6061204
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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