A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18542



Internal ID15827343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:127361022..127362003hg38UCSC Ensembl
Outerchr10:127360118..127363743hg38UCSC Ensembl
Innerchr10:129159286..129160267hg19UCSC Ensembl
Outerchr10:129158382..129162007hg19UCSC Ensembl
Innerchr10:129049276..129050257hg18UCSC Ensembl
Outerchr10:129048372..129051997hg18UCSC Ensembl
Innerchr10:129049276..129050257hg17UCSC Ensembl
Outerchr10:129048372..129051997hg17UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg383626
hg193626
hg183626
hg173626
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8741
Supporting Variants
SamplesNA07029
Known GenesDOCK1
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)nssv18542
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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