A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999712



Internal ID18812562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:157247019..157392700hg38UCSC Ensembl
Innerchr1:157216809..157362490hg19UCSC Ensembl
Innerchr1:155483433..155629114hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38145682
hg19145682
hg18145682
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv441n100
Supporting Variantsnssv3704739, nssv3499379
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999712
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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