A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954484



Internal ID16956671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:48533268..48609567hg38UCSC Ensembl
Outerchr3:48570701..48647000hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3876300
hg1976300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3001380
SamplesBILGI_BIOE
Known GenesCOL7A1, MIR6823, MIR711, PFKFB4, UCN2, UQCRC1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954484
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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