A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6141102



Internal ID340297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1602000..1833000hg38UCSC Ensembl
chr5:1602115..1833114hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38231001
hg19231000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16960806
Samples
Known GenesLOC728613, MIR4277, MRPL36, NDUFS6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6141102
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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