A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033648



Internal ID19122869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39378072..39505398hg38UCSC Ensembl
Innerchr8:39235591..39362917hg19UCSC Ensembl
Innerchr8:39354748..39482074hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38127327
hg19127327
hg18127327
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7174n100
Supporting Variantsnssv3685328, nssv3685327
Samples
Known GenesADAM3A, ADAM5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1033648
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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