A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6396650



Internal ID21054203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:60720538..61348312hg38UCSC Ensembl
chr5:60016365..60644139hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38627775
hg19627775
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18216247
Samples
Known GenesELOVL7, ERCC8, NDUFAF2, SMIM15, ZSWIM6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6396650
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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