A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5441656



Internal ID220120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211944718..212036120hg38UCSC Ensembl
chr1:212118060..212209462hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3891403
hg1991403
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16895093
Samples
Known GenesDTL, INTS7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5441656
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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