A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143478



Internal ID18913571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:228212799..228214299hg38UCSC Ensembl
Outerchr1:228400500..228402000hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg381501
hg191501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3980682
SamplesKWS1
Known GenesC1orf145, OBSCN
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143478
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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