A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16919168



Internal ID13545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130055618..130497618hg38UCSC Ensembl
chr2:130813191..131255191hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38442001
hg19442001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5443971
Supporting Variants
Samples
Known GenesCCDC115, CCDC74B, CYP4F62P, FAR2P2, IMP4, MED15P9, MZT2B, POTEF, POTEI, PTPN18, SMPD4, TUBA3E
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16919168
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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