A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv451306



Internal ID18273030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:142618692..142909521hg38UCSC Ensembl
Innerchr7:142326242..142606687hg19UCSC Ensembl
Innerchr7:142007198..142316809hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38290830
hg19280446
hg18309612
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428187
Supporting Variants
SamplesHGDP00449
Known GenesEPHB6, MTRNR2L6, PRSS1, PRSS2, PRSS3P2, TRPV5, TRPV6
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)nssv451306
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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