A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3770993



Internal ID18963081
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 StatusS
Merged Variantsnsv1075770
Supporting Variants
SamplesKWP1
Known GenesHNRNPCL1, LOC649330, PRAMEF11, PRAMEF2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3770993
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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