A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428403



Internal ID18278167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:129818076..130882067hg38UCSC Ensembl
Innerchr2:130575649..131639640hg19UCSC Ensembl
Innerchr2:130292119..131356110hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg381063992
hg191063992
hg181063992
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv454098, nssv454090, nssv454085, nssv454086, nssv454093, nssv454100, nssv454094, nssv454089, nssv454096, nssv454087, nssv454091, nssv454095, nssv454092
SamplesHGDP01087, HGDP01089, NA18916, NA19189, HGDP00460, HGDP00986, NA19181, NA19225, HGDP01094, HGDP00472, NA19096
Known GenesAMER3, CCDC115, CCDC74B, CFC1, CFC1B, CYP4F30P, CYP4F62P, FAR2P1, FAR2P2, GPR148, IMP4, LOC389033, LOC646743, MED15P9, MZT2B, POTEF, POTEI, POTEJ, PTPN18, RAB6C, RAB6C-AS1, SMPD4, TISP43, 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)nsv428403
Frequency
Sample Size62
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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