A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024258



Internal ID19113475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39378072..39539496hg38UCSC Ensembl
Innerchr8:39235591..39397015hg19UCSC Ensembl
Innerchr8:39354748..39516172hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38161425
hg19161425
hg18161425
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7170n100
Supporting Variantsnssv3687564, nssv3687554, nssv3756651, nssv3756650, nssv3687583, nssv3687563, nssv3687569, nssv3687543, nssv3687560, nssv3687557, nssv3687582, nssv3687578, nssv3687561, nssv3687576, nssv3687575, nssv3687558, nssv3687547, nssv3687562, nssv3687544, nssv3686435, nssv3687572, nssv3687555, nssv3687548, nssv3687553, nssv3687565, nssv3687579, nssv3687550, nssv3687552, nssv3687551, nssv3687580, nssv3687559, nssv3687573, nssv3686432, nssv3687556, nssv3687584, nssv3687567, nssv3687581, nssv3687566, nssv3687545, nssv3686434, nssv3687568, nssv3687546, nssv3687571, nssv3687574, nssv3686433, nssv3687549, nssv3687570, nssv3756652, nssv3687577
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)nsv1024258
Frequency
Sample Size11257
Observed Gain48
Observed Loss1
Observed Complex0
Frequencyn/a


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