A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1146030



Internal ID18850775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3590664..3590771hg38UCSC Ensembl
Outerchr19:3590662..3590769hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3997392
SamplesKWB1
Known GenesGIPC3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1146030
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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