A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115371



Internal ID18908443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:152350624..152356824hg38UCSC Ensembl
Outerchr1:152323100..152329300hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg386201
hg196201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv200n106
Supporting Variantsnssv3976421
SamplesKWS2
Known GenesFLG2, FLG-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115371
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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