A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000498



Internal ID19089715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:45706164..45972580hg38UCSC Ensembl
Innerchr1:46171836..46438252hg19UCSC Ensembl
Innerchr1:45944423..46210839hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38266417
hg19266417
hg18266417
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv159n100
Supporting Variantsnssv3480548
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)nsv1000498
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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