A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118974



Internal ID19252998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:63912224..63913324hg38UCSC Ensembl
Outerchr3:63897900..63899000hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg381101
hg191101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981763
SamplesKWS1
Known GenesATXN7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118974
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