A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997702



Internal ID19157239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:198009438..198107687hg38UCSC Ensembl
Innerchr3:197736309..197834558hg19UCSC Ensembl
Innerchr3:199220706..199318955hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3898250
hg1998250
hg1898250
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3617036
Samples
Known GenesANKRD18DP, LMLN
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997702
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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