A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1122046



Internal ID18921479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44455117..44456017hg38UCSC Ensembl
Outerchr21:45875000..45875900hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38901
hg19901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3967302, nssv3981564
SamplesKWS1, KWS2
Known GenesLRRC3, LRRC3-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1122046
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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