A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21801



Internal ID15838112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46790712..46794079hg38UCSC Ensembl
Outerchr10:46789942..46794401hg38UCSC Ensembl
Innerchr10:46755517..46758883hg19UCSC Ensembl
Outerchr10:46755193..46759653hg19UCSC Ensembl
Innerchr10:46175523..46178889hg18UCSC Ensembl
Outerchr10:46175199..46179659hg18UCSC Ensembl
Innerchr10:46175523..46178889hg17UCSC Ensembl
Outerchr10:46175199..46179659hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg384460
hg194461
hg184461
hg174461
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA18860
Known GenesBMS1P1, BMS1P5
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)nssv21801
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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