A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590246



Internal ID16030969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:48590581..48683607hg38UCSC Ensembl
Innerchr3:48628014..48721040hg19UCSC Ensembl
Innerchr3:48603018..48696044hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3893027
hg1993027
hg1893027
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv963013
Samples
Known GenesCELSR3, COL7A1, MIR4793, MIR6824, NCKIPSD, SLC26A6, TMEM89, UQCRC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590246
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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