A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997352



Internal ID19156890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119572109..119606894hg38UCSC Ensembl
Innerchr1:120114732..120149517hg19UCSC Ensembl
Innerchr1:119916255..119951040hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3834786
hg1934786
hg1834786
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv303n100
Supporting Variantsnssv3496395, nssv3488360, nssv3483288, nssv3493344, nssv3702063, nssv3502626
Samples
Known GenesHSD3BP4, LINC00622
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997352
Frequency
Sample Size11257
Observed Gain3
Observed Loss3
Observed Complex0
Frequencyn/a


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