A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1026678



Internal ID18769209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:2229830..2261063hg38UCSC Ensembl
Innerchr6:2230064..2261297hg19UCSC Ensembl
Innerchr6:2175063..2206296hg18UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg3831234
hg1931234
hg1831234
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3654720
Samples
Known GenesGMDS, GMDS-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1026678
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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