A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1075770



Internal ID18976329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12827640..12869079hg38UCSC Ensembl
chr1:12887499..12928900hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3841440
hg1941402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3770993
SamplesKWP1
Known GenesHNRNPCL1, LOC649330, PRAMEF11, PRAMEF2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1075770
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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