A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000767



Internal ID19089984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:72280838..72313579hg38UCSC Ensembl
Innerchr1:72746521..72779262hg19UCSC Ensembl
Innerchr1:72519109..72551850hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3832742
hg1932742
hg1832742
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv182n100
Supporting Variantsnssv3464711
Samples
Known GenesNEGR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000767
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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