A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23705



Internal ID15843446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148011929..148013226hg38UCSC Ensembl
Outerchr1:148011613..148013560hg38UCSC Ensembl
Innerchr1:147484161..147485458hg19UCSC Ensembl
Outerchr1:147483845..147485792hg19UCSC Ensembl
Innerchr1:145950785..145952082hg18UCSC Ensembl
Outerchr1:145950469..145952416hg18UCSC Ensembl
Innerchr1:144708977..144710274hg17UCSC Ensembl
Outerchr1:144708661..144710608hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg381948
hg191948
hg181948
hg171948
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8180
Supporting Variants
SamplesNA19173
Known GenesPDZK1P1
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)nssv23705
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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