A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4020526



Internal ID22082157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143541857..143764768hg38UCSC Ensembl
Outerchr1:143538619..143778901hg38UCSC Ensembl
Innerchr1:149036524..149259416hg19UCSC Ensembl
Outerchr1:149024808..149273545hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38240283
hg19248738
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1156611
Supporting Variants
Samples
Known GenesLOC101929780, NBPF23
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4020526
Frequency
Sample Size131
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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