A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv451111



Internal ID18274539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76305019..77165858hg38UCSC Ensembl
Innerchr7:75934336..76795175hg19UCSC Ensembl
Innerchr7:75772272..76633111hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38860840
hg19860840
hg18860840
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428174
Supporting Variants
SamplesNA18498
Known GenesCCDC146, DTX2, DTX2P1-UPK3BP1-PMS2P11, FDPSP2, 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)nssv451111
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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