A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952899



Internal ID16955086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1142501..1535899hg38UCSC Ensembl
Outerchr16:1192501..1585900hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38393399
hg19393400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999194
SamplesBILGI_BIOE
Known GenesBAIAP3, C16orf91, CACNA1H, CCDC154, CLCN7, GNPTG, IFT140, PTX4, TELO2, TMEM204, TPSAB1, TPSB2, TPSD1, TPSG1, TSR3, UBE2I, UNKL
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952899
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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