A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148607



Internal ID18851185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:43550537..43553493hg38UCSC Ensembl
Outerchr21:44970418..44973374hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382957
hg192957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000644
SamplesKWB1
Known GenesHSF2BP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148607
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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