A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950071



Internal ID17298945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:62310674..62317473hg38UCSC Ensembl
Outerchr5:61606501..61613300hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg386800
hg196800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997760
SamplesBILGI_BIOE
Known GenesKIF2A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950071
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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