A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12117



Internal ID15842144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:57088907..57092038hg38UCSC Ensembl
Outerchr1:57087282..57093437hg38UCSC Ensembl
Innerchr1:57554580..57557711hg19UCSC Ensembl
Outerchr1:57552955..57559110hg19UCSC Ensembl
Innerchr1:57327168..57330299hg18UCSC Ensembl
Outerchr1:57325543..57331698hg18UCSC Ensembl
Innerchr1:57266601..57269732hg17UCSC Ensembl
Outerchr1:57264976..57271131hg17UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg386156
hg196156
hg186156
hg176156
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10206
Supporting Variants
SamplesNA19132
Known GenesDAB1
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)nssv12117
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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