A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004383



Internal ID18746914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:48506361..48612339hg38UCSC Ensembl
Innerchr3:48543794..48649772hg19UCSC Ensembl
Innerchr3:48518798..48624776hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38105979
hg19105979
hg18105979
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3595252
Samples
Known GenesCOL7A1, MIR6823, MIR711, PFKFB4, UCN2, UQCRC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004383
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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