A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1134543



Internal ID19271558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:48545381..48545451hg38UCSC Ensembl
Outerchr16:48579292..48579362hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3972426
SamplesKWS2
Known GenesN4BP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1134543
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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