A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006891



Internal ID18749422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:45723586..45942360hg38UCSC Ensembl
Innerchr1:46189258..46408032hg19UCSC Ensembl
Innerchr1:45961845..46180619hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38218775
hg19218775
hg18218775
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv159n100
Supporting Variantsnssv3700651
Samples
Known GenesIPP, MAST2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006891
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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