A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139822



Internal ID19271493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:164238848..164243248hg38UCSC Ensembl
Outerchr4:165160000..165164400hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg384401
hg194401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978158
SamplesKWS2
Known GenesMARCH1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139822
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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