A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1070798



Internal ID19319286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4947004..4950105hg38UCSC Ensembl
chr17:4850299..4853400hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg383102
hg193102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3769426
SamplesKWP1
Known GenesPFN1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1070798
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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