A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121782



Internal ID19281096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:151458524..151459424hg38UCSC Ensembl
Outerchr1:151431000..151431900hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38901
hg19901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3994285, nssv3968432
SamplesKWS2, KWS1
Known GenesPOGZ
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121782
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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