A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950709



Internal ID16952896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:47173129..47191428hg38UCSC Ensembl
Outerchr1:47638801..47657100hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3818300
hg1918300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997146
SamplesBILGI_BIOE
Known GenesLINC00853, PDZK1IP1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950709
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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