A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021411



Internal ID19110628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39378072..39466943hg38UCSC Ensembl
Innerchr8:39235591..39324462hg19UCSC Ensembl
Innerchr8:39354748..39443619hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg3888872
hg1988872
hg1888872
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7173n100
Supporting Variantsnssv3685165, nssv3685167, nssv3685163, nssv3760650, nssv3685164, nssv3760651, nssv3685166, nssv3685162
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)nsv1021411
Frequency
Sample Size11257
Observed Gain1
Observed Loss7
Observed Complex0
Frequencyn/a


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