A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072242



Internal ID18971297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:16317770..16317834hg38UCSC Ensembl
chr3:16359277..16359341hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3768914
SamplesKWP1
Known GenesRFTN1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072242
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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