A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16439



Internal ID15843130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:54836005..54837948hg38UCSC Ensembl
Outerchr1:54834992..54840940hg38UCSC Ensembl
Innerchr1:55301678..55303621hg19UCSC Ensembl
Outerchr1:55300665..55306613hg19UCSC Ensembl
Innerchr1:55074266..55076209hg18UCSC Ensembl
Outerchr1:55073253..55079201hg18UCSC Ensembl
Innerchr1:55013699..55015642hg17UCSC 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 StatusS
Merged Variantsnsv10173
Supporting Variants
SamplesNA19173
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)nssv16439
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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