A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029301



Internal ID19118520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:55849091..55969682hg38UCSC Ensembl
Innerchr6:55713889..55834480hg19UCSC Ensembl
Innerchr6:55821848..55942439hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38120592
hg19120592
hg18120592
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5966n100
Supporting Variantsnssv3657499
Samples
Known GenesBMP5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1029301
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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