A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124870



Internal ID19255425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:29212796..29348007hg38UCSC Ensembl
Outerchr13:29786933..29922144hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38135212
hg19135212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977675
SamplesKWS1
Known GenesMTUS2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124870
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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