A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3972471



Internal ID18885660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:5083894..5083970hg38UCSC Ensembl
Outerchr17:4987189..4987265hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1134589
Supporting Variants
SamplesKWS2
Known GenesZFP3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3972471
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