A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3771490



Internal ID19306984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145300206..145308159hg38UCSC Ensembl
chr1:148255799..148257400hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg387954
hg191602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1076344
Supporting Variants
SamplesKWP1
Known GenesLOC101929780, NBPF14, NBPF8, NBPF9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3771490
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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