A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1122284



Internal ID18919208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:3181807..3181925hg38UCSC Ensembl
Outerchr1:3098371..3098489hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv20n106
Supporting Variantsnssv3962233, nssv3990222
SamplesKWS1, KWS2
Known GenesPRDM16
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1122284
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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