A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3997736



Internal ID18844264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:102758023..102758075hg38UCSC Ensembl
Outerchr2:103374482..103374534hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1148949
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3997736
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer