A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114800



Internal ID19283906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:41812179..41812246hg38UCSC Ensembl
Outerchr6:41779917..41779984hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3975078
SamplesKWS2
Known GenesUSP49
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114800
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