A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1144237



Internal ID19256205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:140634501..140636001hg38UCSC Ensembl
Outerchr8:141644600..141646100hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381501
hg191501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3994969
SamplesKWS1
Known GenesAGO2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1144237
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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