A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003952



Internal ID19194490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:226650328..226652554hg38UCSC Ensembl
Outerchr1:226838029..226840255hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg382227
hg192227
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151390
Supporting Variants
SamplesKWB1
Known GenesITPKB
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003952
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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