A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953624



Internal ID16955811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55302033..55625034hg38UCSC Ensembl
Outerchr19:55813401..56136400hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38323002
hg19323000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999890
SamplesBILGI_BIOE
Known GenesBRSK1, COX6B2, FAM71E2, FIZ1, IL11, ISOC2, MIR6805, NAT14, RPL28, SBK2, SBK3, SHISA7, SSC5D, SUV420H2, TMEM150B, TMEM190, TMEM238, UBE2S, ZNF524, ZNF579, ZNF628, ZNF784, ZNF865
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953624
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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