A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130605



Internal ID18932742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:69189602..69190076hg38UCSC Ensembl
Outerchr9:71804518..71804992hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg38475
hg19475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4065n106
Supporting Variantsnssv3992033, nssv3989317
SamplesKWS1, KWS2
Known GenesTJP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130605
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer