A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449088



Internal ID227337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130087618..130459618hg38UCSC Ensembl
chr2:130845191..131217191hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38372001
hg19372001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16919176
Samples
Known GenesCCDC115, CCDC74B, CYP4F62P, FAR2P2, IMP4, MED15P9, MZT2B, POTEF, PTPN18, SMPD4, TUBA3E
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449088
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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