A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004972



Internal ID19094189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:216446067..216473327hg38UCSC Ensembl
Innerchr2:217310790..217338050hg19UCSC Ensembl
Innerchr2:217019035..217046295hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3827261
hg1927261
hg1827261
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3586810
Samples
Known GenesSMARCAL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004972
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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