A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1149837



Internal ID18855755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:23783264..23783330hg38UCSC Ensembl
Outerchr1:24109754..24109820hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3998627
SamplesKWB1
Known GenesPITHD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1149837
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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