A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143572



Internal ID19255917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:114012495..114013295hg38UCSC Ensembl
Outerchr12:114450300..114451100hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv871n106
Supporting Variantsnssv3980782
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143572
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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