A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029923



Internal ID19119142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39391211..39529434hg38UCSC Ensembl
Innerchr8:39248730..39386953hg19UCSC Ensembl
Innerchr8:39367887..39506110hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38138224
hg19138224
hg18138224
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7170n100
Supporting Variantsnssv3756735, nssv3756748, nssv3685737, nssv3756752, nssv3685747, nssv3756749, nssv3756750, nssv3685745, nssv3685738, nssv3685752, nssv3756738, nssv3685736, nssv3685735, nssv3685751, nssv3685746, nssv3756746, nssv3756740, nssv3756745, nssv3685734, nssv3756736, nssv3756742, nssv3685750, nssv3756737, nssv3685742, nssv3756753, nssv3756747, nssv3685744, nssv3756744, nssv3685748, nssv3685733, nssv3756739, nssv3756751, nssv3756734, nssv3756743, nssv3685753, nssv3685740, nssv3685741, nssv3685739, nssv3685749, nssv3756741, nssv3685743, nssv3685754
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)nsv1029923
Frequency
Sample Size11257
Observed Gain40
Observed Loss2
Observed Complex0
Frequencyn/a


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