A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6077891



Internal ID21987124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:8019537..8019537hg38UCSC Ensembl
chr6:8019770..8019770hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17574125
Samples
Known GenesBLOC1S5, BLOC1S5-TXNDC5, EEF1E1-BLOC1S5
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6077891
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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