A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027002



Internal ID19116221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39441317..39505415hg38UCSC Ensembl
Innerchr8:39298836..39362934hg19UCSC Ensembl
Innerchr8:39417993..39482091hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg3864099
hg1964099
hg1864099
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7178n100
Supporting Variantsnssv3685982, nssv3685989, nssv3685993, nssv3685988, nssv3685984, nssv3685991, nssv3685983, nssv3685985, nssv3685981, nssv3685992, nssv3685986, nssv3685990, nssv3685987
Samples
Known GenesADAM3A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027002
Frequency
Sample Size11257
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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