A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003170



Internal ID18745701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:155792413..155866773hg38UCSC Ensembl
Innerchr1:155762204..155836564hg19UCSC Ensembl
Innerchr1:154028828..154103188hg18UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg3874361
hg1974361
hg1874361
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3488152
Samples
Known GenesGON4L, SYT11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003170
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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