A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003776



Internal ID19193954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42609856..42609937hg38UCSC Ensembl
Outerchr21:44029966..44030047hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1150475
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003776
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