A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116229



Internal ID18934652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:60450270..60450331hg38UCSC Ensembl
Outerchr17:58527631..58527692hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3954575
SamplesKWS1
Known GenesAPPBP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116229
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