A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003844



Internal ID18746375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:242200396..242741453hg38UCSC Ensembl
Innerchr1:242363698..242904755hg19UCSC Ensembl
Innerchr1:240430321..240971378hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38541058
hg19541058
hg18541058
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3485873
Samples
Known GenesPLD5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003844
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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