A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147794



Internal ID19199445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:106830673..106830732hg38UCSC Ensembl
Outerchr3:106549520..106549579hg19UCSC Ensembl
Cytoband3q13.12
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3996580
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147794
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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