A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3765469



Internal ID18960175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:147010816..147207577hg38UCSC Ensembl
chr1:146482375..146679136hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38196762
hg19196762
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1077657
Supporting Variants
SamplesKWP1
Known GenesFMO5, LOC728989, NBPF13P, PDIA3P1, PRKAB2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3765469
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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