A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112486



Internal ID18933433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137722918..137723029hg38UCSC Ensembl
Outerchr9:140617370..140617481hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3966576
SamplesKWS2
Known GenesEHMT1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112486
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