A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3982415



Internal ID19216240
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 StatusS
Merged Variantsnsv1145321
Supporting Variants
SamplesKWS1
Known GenesTNFRSF1B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3982415
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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