A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3996443



Internal ID18847232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143575808..143575933hg38UCSC Ensembl
Outerchr8:144657978..144658103hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1147655
Supporting Variants
SamplesKWB1
Known GenesNAPRT1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3996443
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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