A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4002220



Internal ID19189138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:92184946..92185323hg38UCSC Ensembl
Outerchr5:91480763..91481140hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38378
hg19378
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153570
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4002220
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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