A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130903



Internal ID19262922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:53961769..53970633hg38UCSC Ensembl
Outerchr1:54427442..54436306hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg388865
hg198865
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3967605
SamplesKWS2
Known GenesLRRC42
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130903
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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