A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8041



Internal ID15499267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:7188473..7190831hg38UCSC Ensembl
Outerchr7:7228104..7230462hg19UCSC Ensembl
Outerchr7:7194629..7196987hg18UCSC Ensembl
Outerchr7:7001344..7003702hg17UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg382359
hg192359
hg182359
hg172359
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16812
SamplesNA18502
Known GenesC1GALT1
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nsv8041
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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