A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1145321



Internal ID18903498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:12183620..12183680hg38UCSC Ensembl
Outerchr1:12243677..12243737hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3982415
SamplesKWS1
Known GenesTNFRSF1B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1145321
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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