A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997504



Internal ID18810354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:176469087..176497461hg38UCSC Ensembl
Innerchr1:176438223..176466597hg19UCSC Ensembl
Innerchr1:174704846..174733220hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3828375
hg1928375
hg1828375
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv467n100
Supporting Variantsnssv3484132
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)nsv997504
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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