A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001761



Internal ID16948027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:86536178..86544577hg38UCSC Ensembl
Outerchr2:86763301..86771700hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg388400
hg198400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv955217
Supporting Variants
SamplesBILGI_BIOE
Known GenesCHMP3, RNF103-CHMP3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001761
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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