A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22904



Internal ID15491795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:77353568..77354606hg38UCSC Ensembl
Outerchr10:77352992..77355368hg38UCSC Ensembl
Innerchr10:79113326..79114364hg19UCSC Ensembl
Outerchr10:79112750..79115126hg19UCSC Ensembl
Innerchr10:78783332..78784370hg18UCSC Ensembl
Outerchr10:78782756..78785132hg18UCSC Ensembl
Innerchr10:78783332..78784370hg17UCSC Ensembl
Outerchr10:78782756..78785132hg17UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg382377
hg192377
hg182377
hg172377
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8690
Supporting Variants
SamplesNA18860
Known GenesKCNMA1
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)nssv22904
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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