A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001817



Internal ID17294769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:94795756..94849855hg38UCSC Ensembl
Outerchr2:95461501..95515600hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg3854100
hg1954100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953475
Supporting Variants
SamplesBILGI_BIOE
Known GenesANKRD20A8P
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001817
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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