A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001475



Internal ID19090692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:126953184..127013147hg38UCSC Ensembl
Innerchr3:126672027..126731990hg19UCSC Ensembl
Innerchr3:128154717..128214680hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3859964
hg1959964
hg1859964
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3603497
Samples
Known GenesCHCHD6, PLXNA1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001475
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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