A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006854



Internal ID19096072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:72280838..72318527hg38UCSC Ensembl
Innerchr1:72746521..72784210hg19UCSC Ensembl
Innerchr1:72519109..72556798hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3837690
hg1937690
hg1837690
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv182n100
Supporting Variantsnssv3469598
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)nsv1006854
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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