A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4002554



Internal ID18841127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79487704..79487817hg38UCSC Ensembl
Outerchr18:77247704..77247817hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1149044
Supporting Variants
SamplesKWB1
Known GenesNFATC1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4002554
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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