A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3971796



Internal ID18894910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:52019687..52019755hg38UCSC Ensembl
Outerchr13:52593823..52593891hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1134309
Supporting Variants
SamplesKWS2
Known GenesALG11
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3971796
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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