A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3995927



Internal ID19188672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:69238359..69238673hg38UCSC Ensembl
Outerchr10:70998115..70998429hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1146775
Supporting Variants
SamplesKWB1
Known GenesHKDC1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3995927
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