A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1070410



Internal ID18971403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46497933..46706934hg38UCSC Ensembl
chr17:44575299..44784300hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38209002
hg19209002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3770633
SamplesKWP1
Known GenesARL17A, LRRC37A2, NSF, NSFP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1070410
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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