A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3770508



Internal ID18960184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:148132053..148229355hg38UCSC Ensembl
chr1:146062499..146159800hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3897303
hg1997302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1078736
Supporting Variants
SamplesKWP1
Known GenesLOC100288142, LOC101929780, NBPF10, NBPF11, NBPF24
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3770508
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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