A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030126



Internal ID18772657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:79403732..79499448hg38UCSC Ensembl
Innerchr6:80113449..80209165hg19UCSC Ensembl
Innerchr6:80170168..80265884hg18UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3895717
hg1995717
hg1895717
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3648809
Samples
Known GenesLCA5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030126
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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