A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006235



Internal ID19095453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:73612928..73669476hg38UCSC Ensembl
Innerchr2:73840055..73896603hg19UCSC Ensembl
Innerchr2:73693563..73750111hg18UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3856549
hg1956549
hg1856549
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3866n100
Supporting Variantsnssv3577308
Samples
Known GenesALMS1P, NAT8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006235
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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