A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014214



Internal ID19103434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:72275051..72343073hg38UCSC Ensembl
Innerchr1:72740734..72808756hg19UCSC Ensembl
Innerchr1:72513322..72581344hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3868023
hg1968023
hg1868023
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv181n100
Supporting Variantsnssv3476625
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)nsv1014214
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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