A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1127955



Internal ID19286009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:45789559..45789613hg38UCSC Ensembl
Outerchr3:45831051..45831105hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3957353
SamplesKWS1
Known GenesSLC6A20
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1127955
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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