A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004977



Internal ID18747508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:96091359..96153449hg38UCSC Ensembl
Innerchr2:96757107..96819188hg19UCSC Ensembl
Innerchr2:96120834..96182915hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg3862091
hg1962082
hg1862082
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4009n100
Supporting Variantsnssv3579556
Samples
Known GenesADRA2B, ASTL, DUSP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004977
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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