A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014351



Internal ID19103570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:169513990..169554975hg38UCSC Ensembl
Innerchr2:170370500..170411485hg19UCSC Ensembl
Innerchr2:170078746..170119731hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3840986
hg1940986
hg1840986
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4104n100
Supporting Variantsnssv3729272
Samples
Known GenesFASTKD1, KLHL41
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014351
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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