A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1070406



Internal ID18972235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45221632..45222233hg38UCSC Ensembl
chr17:43298999..43299600hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38602
hg19602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3770565
SamplesKWP1
Known GenesFMNL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1070406
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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