A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv958104



Internal ID17306977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:44468315..44469077hg38UCSC Ensembl
Outerchr13:45042451..45043213hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38763
hg19763
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3004263
SamplesBILGI_BIOE
Known GenesTSC22D1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv958104
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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