A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705298



Internal ID15441950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2006646..2067934hg38UCSC Ensembl
Innerchr8:1954812..2016053hg19UCSC Ensembl
Innerchr8:1942219..2003460hg18UCSC Ensembl
Innerchr8:1942219..2003460hg17UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3861289
hg1961242
hg1861242
hg1761242
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528662
Supporting Variants
Samples
Known GenesKBTBD11, MYOM2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705298
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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