A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128626



Internal ID18915656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:152349524..152355524hg38UCSC Ensembl
Outerchr1:152322000..152328000hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv200n106
Supporting Variantsnssv3960537
SamplesKWS1
Known GenesFLG2, FLG-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128626
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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