A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3967197



Internal ID18897057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:46795134..46836534hg38UCSC Ensembl
Outerchr17:44872500..44913900hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3841401
hg1941401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1112710
Supporting Variants
SamplesKWS2
Known GenesWNT3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3967197
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