A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998898



Internal ID18811748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:202597652..202660031hg38UCSC Ensembl
Innerchr1:202566780..202629159hg19UCSC Ensembl
Innerchr1:200833403..200895782hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3862380
hg1962380
hg1862380
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv560n100
Supporting Variantsnssv3499574
Samples
Known GenesSYT2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998898
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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