A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17724472



Internal ID148138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:58504874..58592874hg38UCSC Ensembl
chr19:59016241..59104241hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg3888001
hg1988001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146576
Supporting Variants
Samples
Known GenesCENPBD1P1, CHMP2A, LOC100131691, MIR6807, MZF1, SLC27A5, TRIM28, UBE2M, ZBTB45
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17724472
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001072


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