A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114377



Internal ID19250772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:51439897..51439956hg38UCSC Ensembl
Outerchr3:51473913..51473972hg19UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3973895
SamplesKWS2
Known GenesVPRBP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114377
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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