A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1074045



Internal ID18978774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:191999..193600hg38UCSC Ensembl
chr7:191999..193600hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg381602
hg191602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3768783
SamplesKWP1
Known GenesFAM20C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1074045
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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