A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6387602



Internal ID21045155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:105167..310396hg38UCSC Ensembl
chr5:105282..310511hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38205230
hg19205230
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18122185
Samples
Known GenesAHRR, CCDC127, LOC102467073, LRRC14B, PDCD6, PLEKHG4B, SDHA
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6387602
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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