A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1149780



Internal ID18850753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:48833743..48836172hg38UCSC Ensembl
Outerchr4:48835760..48838189hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg382430
hg192430
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3998566
SamplesKWB1
Known GenesOCIAD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1149780
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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