A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999681



Internal ID17292633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:9854502..9871601hg38UCSC Ensembl
Outerchr12:10007101..10024200hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3817100
hg1917100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951325
Supporting Variants
SamplesBILGI_BIOE
Known GenesCLEC2B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999681
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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