A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17430054



Internal ID22487924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:35948470..36584214hg38UCSC Ensembl
chr6:35916247..36551991hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg38635745
hg19635745
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5892330
Supporting Variants
Samples
Known GenesBRPF3, C6orf222, ETV7, KCTD20, MAPK13, MAPK14, PNPLA1, PXT1, SLC26A8, STK38
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17430054
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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