A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078352



Internal ID19320963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:38990527..38992128hg38UCSC Ensembl
chr1:39456199..39457800hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg381602
hg191602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3770316
SamplesKWP1
Known GenesAKIRIN1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1078352
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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