A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997348



Internal ID16943614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:111325697..111326496hg38UCSC Ensembl
Outerchr12:111763501..111764300hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg38800
hg19800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952478
Supporting Variants
SamplesBILGI_BIOE
Known GenesCUX2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997348
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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