A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6004712



Internal ID21914055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:118282895..118282947hg38UCSC Ensembl
chr5:117618590..117618642hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17537733
Samples
Known GenesLOC100505811
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6004712
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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