A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953300



Internal ID17302174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:38735161..38739060hg38UCSC Ensembl
Outerchr19:39225801..39229700hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg383900
hg193900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999836
SamplesBILGI_BIOE
Known GenesCAPN12
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953300
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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