A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1070391



Internal ID18969316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:12991795..12991846hg38UCSC Ensembl
chr17:12895112..12895163hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3768879
SamplesKWP1
Known GenesELAC2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1070391
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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