A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116198



Internal ID19282595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:21401211..21401283hg38UCSC Ensembl
Outerchr17:21304523..21304595hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3954534
SamplesKWS1
Known GenesKCNJ12
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116198
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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