A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1145350



Internal ID19282094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:70804534..70834324hg38UCSC Ensembl
Outerchr1:71270217..71300007hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3829791
hg1929791
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3982457
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1145350
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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