A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527357



Internal ID15107964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:73543543..73615680hg38UCSC Ensembl
Innerchr6:74253266..74325403hg19UCSC Ensembl
Innerchr6:74309987..74382124hg18UCSC Ensembl
Innerchr6:74309987..74382124hg17UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3872138
hg1972138
hg1872138
hg1772138
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703786
Samples
Known GenesSLC17A5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527357
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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