A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112220



Internal ID18932206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:166077887..166077975hg38UCSC Ensembl
Outerchr1:166047124..166047212hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3965917
SamplesKWS2
Known GenesFAM78B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112220
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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