A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953587



Internal ID16955774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:45039143..45166142hg38UCSC Ensembl
Outerchr19:45542401..45669400hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38127000
hg19127000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999853
SamplesBILGI_BIOE
Known GenesCLASRP, GEMIN7, NKPD1, PPP1R37, TRAPPC6A, ZNF296
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953587
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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