A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517370



Internal ID15444663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:44417704..44454952hg38UCSC Ensembl
Innerchr6:44385441..44422689hg19UCSC Ensembl
Innerchr6:44493419..44530667hg18UCSC Ensembl
Innerchr6:44493419..44530667hg17UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3837249
hg1937249
hg1837249
hg1737249
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv665399, nssv690020, nssv688561, nssv669815, nssv676648, nssv660040, nssv669570, nssv663681, nssv676701, nssv667299, nssv678993, nssv695531, nssv651833, nssv689134
Samples
Known GenesCDC5L, MIR4642
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517370
Frequency
Sample Size2026
Observed Gain8
Observed Loss6
Observed Complex0
Frequencyn/a


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