A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003445



Internal ID19092663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:194677495..194719179hg38UCSC Ensembl
Innerchr3:194398224..194439908hg19UCSC Ensembl
Innerchr3:195879513..195921197hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3841685
hg1941685
hg1841685
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3611370
Samples
Known GenesFAM43A, LOC100507391
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003445
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer