A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034048



Internal ID18776582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:93358768..93433213hg38UCSC Ensembl
Innerchr6:94068486..94142931hg19UCSC Ensembl
Innerchr6:94125207..94199652hg18UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg3874446
hg1974446
hg1874446
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3648981
Samples
Known GenesEPHA7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1034048
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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