A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009108



Internal ID18751639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:176469528..176506044hg38UCSC Ensembl
Innerchr1:176438664..176475180hg19UCSC Ensembl
Innerchr1:174705287..174741803hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3836517
hg1936517
hg1836517
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv467n100
Supporting Variantsnssv3704827
Samples
Known GenesPAPPA2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009108
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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