A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999983



Internal ID19191664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:127244415..127244490hg38UCSC Ensembl
Outerchr9:130006694..130006769hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1147209
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999983
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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