A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444904



Internal ID223268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:1617836..1874482hg38UCSC Ensembl
chr2:1621608..1878254hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38256647
hg19256647
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16899002
Samples
Known GenesMYT1L, PXDN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444904
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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