A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953285



Internal ID16955472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:35520199..35562498hg38UCSC Ensembl
Outerchr19:36011101..36053400hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3842300
hg1942300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999821
SamplesBILGI_BIOE
Known GenesATP4A, GAPDHS, LOC100506469, SBSN, TMEM147
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953285
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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