A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1144953



Internal ID18913233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:43550419..43551319hg38UCSC Ensembl
Outerchr21:44970300..44971200hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38901
hg19901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981562
SamplesKWS1
Known GenesHSF2BP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1144953
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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