A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147936



Internal ID19195637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:20322946..20323013hg38UCSC Ensembl
Outerchr6:20323177..20323244hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4001449
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147936
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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