A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003547



Internal ID18842380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89536233..89536333hg38UCSC Ensembl
Outerchr16:89602641..89602741hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1150246
Supporting Variants
SamplesKWB1
Known GenesSPG7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003547
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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