A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125463



Internal ID18905510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:61773205..61773258hg38UCSC Ensembl
Outerchr1:62238877..62238930hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3983637
SamplesKWS2
Known GenesINADL
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125463
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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