A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18003575



Internal ID20570615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:75343926..75352485hg38UCSC Ensembl
chr12:75737706..75746265hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg388560
hg198560
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6473427
Supporting Variants
Samples
Known GenesCAPS2, GLIPR1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18003575
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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