A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19509



Internal ID15831011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:54165740..54262853hg38UCSC Ensembl
Outerchr10:54043346..54262887hg38UCSC Ensembl
Innerchr10:55925500..56022613hg19UCSC Ensembl
Outerchr10:55803106..56022647hg19UCSC Ensembl
Innerchr10:55595506..55692619hg18UCSC Ensembl
Outerchr10:55473112..55692653hg18UCSC Ensembl
Innerchr10:55595506..55692619hg17UCSC Ensembl
Outerchr10:55473112..55692653hg17UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38219542
hg19219542
hg18219542
hg17219542
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8667
Supporting Variants
SamplesNA12740
Known GenesPCDH15
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)nssv19509
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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