A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999913



Internal ID19193130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:70671351..70672404hg38UCSC Ensembl
Outerchr8:71583586..71584639hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg381054
hg191054
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1152729
Supporting Variants
SamplesKWB1
Known GenesXKR9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999913
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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