A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1071378



Internal ID19319224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:32007380..32007881hg38UCSC Ensembl
chr17:30334399..30334900hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38502
hg19502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3762036
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1071378
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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