A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013142



Internal ID18755673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:73627784..73684384hg38UCSC Ensembl
Innerchr2:73854911..73911511hg19UCSC Ensembl
Innerchr2:73708419..73765019hg18UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3856601
hg1956601
hg1856601
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3867n100
Supporting Variantsnssv3581983, nssv3581982
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)nsv1013142
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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