A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19444



Internal ID15828266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:87076848..87084756hg38UCSC Ensembl
Outerchr10:87076397..87085715hg38UCSC Ensembl
Innerchr10:88836605..88844513hg19UCSC Ensembl
Outerchr10:88836154..88845472hg19UCSC Ensembl
Innerchr10:88826585..88834493hg18UCSC Ensembl
Outerchr10:88826134..88835452hg18UCSC Ensembl
Innerchr10:88826585..88834493hg17UCSC Ensembl
Outerchr10:88826134..88835452hg17UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg389319
hg199319
hg189319
hg179319
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8714
Supporting Variants
SamplesNA10839
Known GenesGLUD1
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)nssv19444
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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