A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1111905



Internal ID19255094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:30469464..30469687hg38UCSC Ensembl
Outerchr13:31043601..31043824hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38224
hg19224
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv940n106
Supporting Variantsnssv3988652, nssv3964815
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1111905
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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