A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3997152



Internal ID19189377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:120815654..120847833hg38UCSC Ensembl
Outerchr1:147997299..148024100hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3832180
hg1926802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1145789
Supporting Variants
SamplesKWB1
Known GenesNBPF8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3997152
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