A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126611



Internal ID18909459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:43426720..43428320hg38UCSC Ensembl
Outerchr21:44846600..44848200hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381601
hg191601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2398n106
Supporting Variantsnssv3984873
SamplesKWS1
Known GenesSIK1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126611
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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