A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112048



Internal ID18908132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:178832342..178833083hg38UCSC Ensembl
Outerchr3:178550130..178550871hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg38742
hg19742
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2642n106
Supporting Variantsnssv3965735
SamplesKWS2
Known GenesKCNMB2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112048
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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