A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1070794



Internal ID18970934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2593605..2594206hg38UCSC Ensembl
chr17:2496899..2497500hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38602
hg19602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3765121
SamplesKWP1
Known GenesPAFAH1B1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1070794
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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