A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119347



Internal ID19248273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:148849013..148849313hg38UCSC Ensembl
Outerchr3:148566800..148567100hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2618n106
Supporting Variantsnssv3959787
SamplesKWS1
Known GenesCPB1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119347
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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