A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv450831



Internal ID18275053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103549696..103794978hg38UCSC Ensembl
Innerchr1:104092318..104337600hg19UCSC Ensembl
Innerchr1:103893841..104139123hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38245283
hg19245283
hg18245283
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428157
Supporting Variants
SamplesNA19181
Known GenesACTG1P4, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, RNPC3
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)nssv450831
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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