A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011285



Internal ID19100502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:72275051..72353195hg38UCSC Ensembl
Innerchr1:72740734..72818878hg19UCSC Ensembl
Innerchr1:72513322..72591466hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3878145
hg1978145
hg1878145
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv181n100
Supporting Variantsnssv3472152
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)nsv1011285
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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