A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112200



Internal ID19259975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:109667920..109668235hg38UCSC Ensembl
Outerchr9:112430200..112430515hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4124n106
Supporting Variantsnssv3966923, nssv3974187
SamplesKWS2, KWS1
Known GenesPALM2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112200
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