A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001320



Internal ID17294272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241733186..241779285hg38UCSC Ensembl
Outerchr2:242672601..242718700hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3846100
hg1946100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv955300
Supporting Variants
SamplesBILGI_BIOE
Known GenesD2HGDH, GAL3ST2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001320
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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