A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143469



Internal ID18937904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:154220824..154221724hg38UCSC Ensembl
Outerchr1:154193300..154194200hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38901
hg19901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3980672
SamplesKWS1
Known GenesUBAP2L
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143469
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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