A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv956448



Internal ID17305321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:79717909..79718227hg38UCSC Ensembl
Outerchr5:79013732..79014050hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3002084
SamplesBILGI_BIOE
Known GenesCMYA5
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv956448
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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