A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072798



Internal ID19316726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:47247628..47248329hg38UCSC Ensembl
chr18:44773999..44774700hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38702
hg19702
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3768243
SamplesKWP1
Known GenesSKOR2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072798
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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