A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952530



Internal ID17301404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:26758864..26761763hg38UCSC Ensembl
Outerchr13:27333001..27335900hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg382900
hg192900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998198
SamplesBILGI_BIOE
Known GenesGPR12
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952530
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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