A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17165



Internal ID15828930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46736509..46782428hg38UCSC Ensembl
Outerchr10:46736238..46782806hg38UCSC Ensembl
Innerchr10:46767197..46813108hg19UCSC Ensembl
Outerchr10:46766819..46813379hg19UCSC Ensembl
Innerchr10:46187203..46233114hg18UCSC Ensembl
Outerchr10:46186825..46233385hg18UCSC Ensembl
Innerchr10:46187203..46233114hg17UCSC Ensembl
Outerchr10:46186825..46233385hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3846569
hg1946561
hg1846561
hg1746561
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA10847
Known GenesGLUD1P7
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)nssv17165
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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