A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4000030



Internal ID19187042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:95758523..95763824hg38UCSC Ensembl
Outerchr6:96206399..96211700hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg385302
hg195302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1147256
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4000030
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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