A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4002246



Internal ID18843997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:205603519..205603574hg38UCSC Ensembl
Outerchr1:205572647..205572702hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153591
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4002246
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