A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1074861



Internal ID19325316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:107668098..107673899hg38UCSC Ensembl
chr5:107003799..107009600hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg385802
hg195802
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3762857
SamplesKWP1
Known GenesEFNA5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1074861
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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