A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705531



Internal ID15442183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:38940739..38942599hg38UCSC Ensembl
Innerchr6:38908515..38910375hg19UCSC Ensembl
Innerchr6:39016493..39018353hg18UCSC Ensembl
Innerchr6:39016493..39018353hg17UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg381861
hg191861
hg181861
hg171861
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528852
Supporting Variants
Samples
Known GenesDNAH8, LOC100131047
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705531
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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