A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428212



Internal ID18624662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143931443..145483353hg19UCSC Ensembl
Innerchr1:142642781..144194710hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg191551911
hg181551930
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv451219, nssv451298, nssv451230, nssv451186, nssv451309, nssv451208, nssv451331, nssv451243, nssv451175, nssv451164, nssv451197, nssv451287, nssv451265, nssv451254
SamplesHGDP00462, HGDP00463, HGDP01089, NA18916, HGDP00476, HGDP00460, HGDP00450, HGDP00986, NA19257, HGDP01094, HGDP00472, HGDP00471, HGDP00449
Known GenesANKRD34A, HFE2, LINC00623, LIX1L, LOC100288142, LOC101929780, LOC653513, LOC728875, NBPF10, NBPF12, NBPF8, NBPF9, NOTCH2NL, PDE4DIP, PFN1P2, POLR3GL, PPIAL4A, PPIAL4B, PPIAL4C, SEC22B, TXNIP
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)nsv428212
Frequency
Sample Size62
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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