A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1144990



Internal ID19259196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:53044984..53046584hg38UCSC Ensembl
Outerchr3:53079000..53080600hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg381601
hg191601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981601
SamplesKWS1
Known GenesSFMBT1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1144990
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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