A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114380



Internal ID19273691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:52675821..52676156hg38UCSC Ensembl
Outerchr3:52709837..52710172hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38336
hg19336
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3956990, nssv3973419
SamplesKWS2, KWS1
Known GenesPBRM1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114380
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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