A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3677430



Internal ID18629025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6471107..6503222hg38UCSC Ensembl
Innerchr8:6328628..6360743hg19UCSC Ensembl
Innerchr8:6316036..6348151hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3832116
hg1932116
hg1832116
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1025860
Supporting Variants
Samples
Known GenesANGPT2, MCPH1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3677430
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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