A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1149999



Internal ID19201891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248938000..248941501hg38UCSC Ensembl
Outerchr1:249232199..249235700hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg383502
hg193502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3998785
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1149999
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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