A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999832



Internal ID16946098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:38324061..38403060hg38UCSC Ensembl
Outerchr19:38814701..38893700hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3879000
hg1979000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953296
Supporting Variants
SamplesBILGI_BIOE
Known GenesCATSPERG, GGN, KCNK6, PSMD8, SPRED3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999832
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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