A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952180



Internal ID17301054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:52140617..52148716hg38UCSC Ensembl
Outerchr12:52534401..52542500hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg388100
hg198100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999729
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952180
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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