A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428157



Internal ID18277921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103447737..103909380hg38UCSC Ensembl
Innerchr1:103990359..104452002hg19UCSC Ensembl
Innerchr1:103762947..104253525hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38461644
hg19461644
hg18490579
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450820, nssv450687, nssv450642, nssv450775, nssv450675, nssv450731, nssv450631, nssv450798, nssv450831, nssv450653, nssv450764, nssv450842, nssv450809, nssv450786, nssv450720, nssv450698, nssv450753, nssv450709, nssv450664, nssv450742
SamplesHGDP01087, HGDP00462, HGDP01088, HGDP01089, NA18916, NA18498, HGDP00476, HGDP00460, HGDP00473, HGDP00986, HGDP00467, NA19181, NA19113, NA19257, NA19225, NA19147, HGDP01094, HGDP00472, HGDP00474, NA19096
Known GenesACTG1P4, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, LOC101928436, 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)nsv428157
Frequency
Sample Size62
Observed Gain14
Observed Loss6
Observed Complex0
Frequencyn/a


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