A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428170



Internal ID18624620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:72318449..72452554hg38UCSC Ensembl
Innerchr7:71783434..71917539hg19UCSC Ensembl
Innerchr7:71421370..71555475hg18UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38134106
hg19134106
hg18134106
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv451056
SamplesNA19189
Known GenesCALN1
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)nsv428170
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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