A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123534



Internal ID19274323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:16290678..16290746hg38UCSC Ensembl
Outerchr21:17662999..17663067hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3973301, nssv3955713
SamplesKWS2, KWS1
Known GenesLINC00478
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123534
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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