A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1150083



Internal ID19199813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:14230982..14236283hg38UCSC Ensembl
Outerchr17:14134299..14139600hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg385302
hg195302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3998870
SamplesKWB1
Known GenesCDRT15
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1150083
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