A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21912



Internal ID15486371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:125834011..125836078hg38UCSC Ensembl
Outerchr10:125833274..125836965hg38UCSC Ensembl
Innerchr10:127522580..127524647hg19UCSC Ensembl
Outerchr10:127521843..127525534hg19UCSC Ensembl
Innerchr10:127512570..127514637hg18UCSC Ensembl
Outerchr10:127511833..127515524hg18UCSC Ensembl
Innerchr10:127512570..127514637hg17UCSC Ensembl
Outerchr10:127511833..127515524hg17UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg383692
hg193692
hg183692
hg173692
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8737
Supporting Variants
SamplesNA18502
Known GenesBCCIP, DHX32
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)nssv21912
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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