A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518386



Internal ID15098993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:36974970..37069894hg38UCSC Ensembl
Innerchr6:36942746..37037670hg19UCSC Ensembl
Innerchr6:37050724..37145648hg18UCSC Ensembl
Innerchr6:37050724..37145648hg17UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3894925
hg1994925
hg1894925
hg1794925
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695817
Samples
Known GenesFGD2, MTCH1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518386
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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