A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950706



Internal ID16952893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:45001329..45011128hg38UCSC Ensembl
Outerchr1:45467001..45476800hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg389800
hg199800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997143
SamplesBILGI_BIOE
Known GenesHECTD3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950706
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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