A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953973



Internal ID17302847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:234245855..234250254hg38UCSC Ensembl
Outerchr1:234381601..234386000hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg384400
hg194400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3001620
SamplesBILGI_BIOE
Known GenesSLC35F3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953973
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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