A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6141578



Internal ID340775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:100957300..101031000hg38UCSC Ensembl
chr7:100550654..100674281hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3873701
hg19123628
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17000750
Samples
Known GenesMUC12, MUC17
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6141578
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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