A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124592



Internal ID18908137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:143725749..143732652hg38UCSC Ensembl
Outerchr1:149220400..149227300hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg386904
hg196901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3976646
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124592
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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