A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1144054



Internal ID18919406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:184379812..184380812hg38UCSC Ensembl
Outerchr3:184097600..184098600hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2651n106
Supporting Variantsnssv3994770
SamplesKWS1
Known GenesCHRD
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1144054
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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