A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998940



Internal ID16945206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:7881316..7955515hg38UCSC Ensembl
Outerchr19:7946201..8020400hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3874200
hg1974200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953961
Supporting Variants
SamplesBILGI_BIOE
Known GenesCTXN1, LRRC8E, MAP2K7, SNAPC2, TGFBR3L, TIMM44
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998940
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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