A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525878



Internal ID15106485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:183873970..183944406hg38UCSC Ensembl
Innerchr1:183843104..183913540hg19UCSC Ensembl
Innerchr1:182109727..182180163hg18UCSC Ensembl
Innerchr1:180574761..180645197hg17UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3870437
hg1970437
hg1870437
hg1770437
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv702078
Samples
Known GenesCOLGALT2, RGL1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv525878
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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