A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114442



Internal ID18922169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:159286057..159286118hg38UCSC Ensembl
Outerchr3:159003846..159003907hg19UCSC Ensembl
Cytoband3q25.33
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3974338
SamplesKWS2
Known GenesIQCJ-SCHIP1, SCHIP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114442
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