A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1145363



Internal ID18919191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:117205094..117205144hg38UCSC Ensembl
Outerchr1:117747716..117747766hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3982475
SamplesKWS1
Known GenesVTCN1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1145363
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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