A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592523



Internal ID16379932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:173511984..173571491hg38UCSC Ensembl
Innerchr3:173229774..173289281hg19UCSC Ensembl
Innerchr3:174712468..174771975hg18UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3859508
hg1959508
hg1859508
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8732n54
Supporting Variantsnssv1152063, nssv1152064, nssv1152062
SamplesHGDP01061, HGDP00869, HGDP00875
Known GenesNLGN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592523
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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