A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078147



Internal ID19317456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149182926..149185573hg38UCSC Ensembl
chr1:144511499..144514100hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg382648
hg192602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3768125
SamplesKWP1
Known GenesLOC100288142, LOC728875
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1078147
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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