A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001883



Internal ID16948149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:121224025..121247424hg38UCSC Ensembl
Outerchr2:121981601..122005000hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3823400
hg1923400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv954806
Supporting Variants
SamplesBILGI_BIOE
Known GenesTFCP2L1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001883
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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