A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121268



Internal ID19247740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:148849005..148849323hg38UCSC Ensembl
Outerchr3:148566792..148567110hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2618n106
Supporting Variantsnssv3970593, nssv3989163
SamplesKWS2, KWS1
Known GenesCPB1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121268
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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