A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952492



Internal ID16954679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:120090097..120106496hg38UCSC Ensembl
Outerchr12:120527901..120544300hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3816400
hg1916400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997364
SamplesBILGI_BIOE
Known GenesCCDC64, RAB35
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952492
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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