A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121242



Internal ID19252787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10475721..10476288hg38UCSC Ensembl
Outerchr21:11036169..11036736hg19UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38568
hg19568
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2350n106
Supporting Variantsnssv3956476, nssv3989140
SamplesKWS2, KWS1
Known GenesBAGE2, BAGE3, BAGE4, BAGE5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121242
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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