A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523531



Internal ID15104138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:246730646..246804597hg38UCSC Ensembl
Innerchr1:246893948..246967899hg19UCSC Ensembl
Innerchr1:244960571..245034522hg18UCSC Ensembl
Innerchr1:243219989..243293940hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3873952
hg1973952
hg1873952
hg1773952
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699306
Samples
Known GenesLOC149134, SCCPDH
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523531
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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