A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3003123



Internal ID16949389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:219051979..219061778hg38UCSC Ensembl
Outerchr2:219916701..219926500hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg389800
hg199800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv954840
Supporting Variants
SamplesBILGI_BIOE
Known GenesIHH, MIR3131
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3003123
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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