A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6139392



Internal ID338577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232343963..232451809hg38UCSC Ensembl
chr2:233208673..233316519hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38107847
hg19107847
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928603
Samples
Known GenesALPP, ALPPL2, DIS3L2, ECEL1P2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6139392
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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