A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028201



Internal ID18770732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:90956299..90997736hg38UCSC Ensembl
Innerchr8:91968527..92009964hg19UCSC Ensembl
Innerchr8:92037703..92079140hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3841438
hg1941438
hg1841438
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3689712, nssv3689711
Samples
Known GenesC8orf88, NECAB1, TMEM55A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028201
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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