A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv454093



Internal ID18275144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:129818076..130272118hg38UCSC Ensembl
Innerchr2:130575649..131029691hg19UCSC Ensembl
Innerchr2:130292119..130746161hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38454043
hg19454043
hg18454043
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428403
Supporting Variants
SamplesNA19189
Known GenesCCDC74B, FAR2P1, LOC389033, MED15P9, MZT2B, POTEF, RAB6C, RAB6C-AS1, SMPD4, TUBA3E
MethodBAC aCGH
AnalysisCopy number variable segments were automatically detected using the CNVfinder algorithm (Fiegler et al. 2006).
PlatformSanger H. sapiens Whole Genome Tile Path 28.7k v3
Comments
ReferencePerry_et_al_2008b
Pubmed ID18775914
Accession Number(s)nssv454093
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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