A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6139625



Internal ID338814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112361618..112386100hg38UCSC Ensembl
chr2:113119195..113143677hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3824483
hg1924483
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16916597
Samples
Known GenesRGPD5, RGPD8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6139625
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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