A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123643



Internal ID18926946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:46554265..46554317hg38UCSC Ensembl
Outerchr3:46595755..46595807hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3973891, nssv3956589
SamplesKWS2, KWS1
Known GenesLRRC2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123643
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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