A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114276



Internal ID18938793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:25982946..25982999hg38UCSC Ensembl
Outerchr21:27355259..27355312hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3986097, nssv3973313
SamplesKWS2, KWS1
Known GenesAPP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114276
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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