A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005323



Internal ID18747854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:112453143..112555766hg38UCSC Ensembl
Innerchr3:112171990..112274613hg19UCSC Ensembl
Innerchr3:113654680..113757303hg18UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg38102624
hg19102624
hg18102624
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3604446
Samples
Known GenesATG3, BTLA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005323
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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