A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136801



Internal ID18915727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:197527737..197527833hg38UCSC Ensembl
Outerchr3:197254608..197254704hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3974710
SamplesKWS2
Known GenesBDH1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136801
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