A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148900



Internal ID18850180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:206194530..206266853hg38UCSC Ensembl
Outerchr1:206074499..206146800hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3872324
hg1972302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3997687
SamplesKWB1
Known GenesFAM72A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148900
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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