A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998009



Internal ID19157546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:236507491..236649097hg38UCSC Ensembl
Innerchr1:236670791..236812397hg19UCSC Ensembl
Innerchr1:234737414..234879020hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38141607
hg19141607
hg18141607
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3498574
Samples
Known GenesHEATR1, LGALS8, LGALS8-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998009
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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