A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006033



Internal ID18748564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:73612928..73673729hg38UCSC Ensembl
Innerchr2:73840055..73900856hg19UCSC Ensembl
Innerchr2:73693563..73754364hg18UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3860802
hg1960802
hg1860802
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3867n100
Supporting Variantsnssv3731971, nssv3731972
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)nsv1006033
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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