A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021285



Internal ID18763819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:150819721..151343862hg38UCSC Ensembl
Innerchr6:151140857..151664997hg19UCSC Ensembl
Innerchr6:151182550..151706690hg18UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38524142
hg19524141
hg18524141
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3654469
Samples
Known GenesAKAP12, MTHFD1L, PLEKHG1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1021285
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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