A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5462370



Internal ID240298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:73218916..73234263hg38UCSC Ensembl
chr6:73928639..73943986hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3815348
hg1915348
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16984596
Samples
Known GenesKHDC1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5462370
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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