A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv451112



Internal ID18275074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76351577..77165858hg38UCSC Ensembl
Innerchr7:75980894..76795175hg19UCSC Ensembl
Innerchr7:75818830..76633111hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38814282
hg19814282
hg18814282
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428174
Supporting Variants
SamplesNA19181
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)nssv451112
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer