A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28940



Internal ID15493180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1292176..1296550hg38UCSC Ensembl
Outerchr1:1291617..1298041hg38UCSC Ensembl
Innerchr1:1227556..1231930hg19UCSC Ensembl
Outerchr1:1226997..1233421hg19UCSC Ensembl
Innerchr1:1217419..1221793hg18UCSC Ensembl
Outerchr1:1216860..1223284hg18UCSC Ensembl
Innerchr1:1267479..1271853hg17UCSC Ensembl
Outerchr1:1266920..1273344hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg386425
hg196425
hg186425
hg176425
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10161
Supporting Variants
SamplesNA18972
Known GenesACAP3, MIR6726, SCNN1D
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)nssv28940
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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