A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147730



Internal ID19200654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:82436933..82437021hg38UCSC Ensembl
Outerchr9:85051848..85051936hg19UCSC Ensembl
Cytoband9q21.32
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3996517
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147730
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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