A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525438



Internal ID15106045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:30897052..30966198hg38UCSC Ensembl
Innerchr6:30864829..30933975hg19UCSC Ensembl
Innerchr6:30972808..31041954hg18UCSC Ensembl
Innerchr6:30972808..31041954hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3869147
hg1969147
hg1869147
hg1769147
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv701566
Samples
Known GenesDDR1, DPCR1, GTF2H4, SFTA2, VARS2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv525438
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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