A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428174



Internal ID18277938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76305019..77220062hg38UCSC Ensembl
Innerchr7:75934336..76849379hg19UCSC Ensembl
Innerchr7:75772272..76687315hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38915044
hg19915044
hg18915044
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv451132, nssv451127, nssv451126, nssv451112, nssv451128, nssv451111, nssv451129
SamplesNA19257, NA19147, HGDP01093, HGDP01094, NA19181, NA18498, HGDP00449
Known GenesCCDC146, DTX2, DTX2P1-UPK3BP1-PMS2P11, FDPSP2, FGL2, LOC100132832, LOC100133091, POMZP3, SRCRB4D, UPK3B, YWHAG, ZP3
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)nsv428174
Frequency
Sample Size62
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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