A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1134590



Internal ID19279795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:5461748..5461813hg38UCSC Ensembl
Outerchr17:5365068..5365133hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3972472
SamplesKWS2
Known GenesDHX33
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1134590
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