A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952500



Internal ID16954687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:124296455..124567454hg38UCSC Ensembl
Outerchr12:124781001..125052000hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38271000
hg19271000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997373
SamplesBILGI_BIOE
Known GenesFAM101A, MIR6880, NCOR2, ZNF664-FAM101A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952500
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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