A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3971790



Internal ID19245528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:40768342..40768421hg38UCSC Ensembl
Outerchr13:41342478..41342557hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1134304
Supporting Variants
SamplesKWS2
Known GenesMRPS31
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3971790
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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