A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010916



Internal ID18753449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:210283006..210340557hg38UCSC Ensembl
Innerchr2:211147730..211205281hg19UCSC Ensembl
Innerchr2:210855975..210913526hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3857552
hg1957552
hg1857552
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4163n100
Supporting Variantsnssv3585615
Samples
Known GenesMYL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010916
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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