A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1122668



Internal ID18911054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:114526438..114526508hg38UCSC Ensembl
Outerchr11:114397160..114397230hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3968723, nssv3985620
SamplesKWS1, KWS2
Known GenesNXPE1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1122668
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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