A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123645



Internal ID18919925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:47449177..47451950hg38UCSC Ensembl
Outerchr3:47490667..47493440hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg382774
hg192774
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2521n106
Supporting Variantsnssv3969705, nssv3973413
SamplesKWS2, KWS1
Known GenesSCAP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123645
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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