A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124459



Internal ID18918379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:104887291..104887362hg38UCSC Ensembl
Outerchr9:107649572..107649643hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3975754
SamplesKWS2
Known GenesABCA1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124459
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