A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1149468



Internal ID18849511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:100898048..100898097hg38UCSC Ensembl
Outerchr1:101363604..101363653hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000770
SamplesKWB1
Known GenesSLC30A7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1149468
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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