A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072741



Internal ID18972808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46292033..46496634hg38UCSC Ensembl
chr17:44369399..44574000hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38204602
hg19204602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3763947
SamplesKWP1
Known GenesARL17A, ARL17B, LRRC37A, NSFP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072741
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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