A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1117903



Internal ID18915129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:110067915..110068618hg38UCSC Ensembl
Outerchr9:112830195..112830898hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38704
hg19704
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3958847
SamplesKWS1
Known GenesAKAP2, PALM2-AKAP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1117903
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