A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3004092



Internal ID16950358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:27281087..27281408hg38UCSC Ensembl
Outerchr12:27434020..27434341hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv958659
Supporting Variants
SamplesBILGI_BIOE
Known GenesSTK38L
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3004092
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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