A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10173



Internal ID15845136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:54834992..54840940hg38UCSC Ensembl
Outerchr1:55300665..55306613hg19UCSC Ensembl
Outerchr1:55073253..55079201hg18UCSC Ensembl
Outerchr1:55012686..55018634hg17UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg385949
hg195949
hg185949
hg175949
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13760, nssv16439
SamplesNA18853, NA19173
Known GenesC1orf177
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)nsv10173
Frequency
Sample Size31
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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