A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428201



Internal ID18277965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119724690..120154589hg38UCSC Ensembl
Innerchr1:120267313..120697156hg19UCSC Ensembl
Innerchr1:120068836..120498679hg18UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38429900
hg19429844
hg18429844
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv451031, nssv451097, nssv451108, nssv451042, nssv451053, nssv451020, nssv451086, nssv451075
SamplesHGDP00450, HGDP00462, HGDP01094, NA19096, NA18916, HGDP01089, HGDP00986, HGDP00449
Known GenesADAM30, HMGCS2, NBPF7, NOTCH2, PHGDH, REG4
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)nsv428201
Frequency
Sample Size62
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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