A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112043



Internal ID18922963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:134955060..134955713hg38UCSC Ensembl
Outerchr3:134673902..134674555hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg38654
hg19654
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2606n106
Supporting Variantsnssv3965262, nssv3968029
SamplesKWS2, KWS1
Known GenesEPHB1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112043
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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