A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024304



Internal ID18766837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:57923266..58051308hg38UCSC Ensembl
Innerchr6:58249544..58377586hg19UCSC Ensembl
Innerchr6:58357503..58485545hg18UCSC Ensembl
Cytoband6p11.1
Allele length
AssemblyAllele length
hg38128043
hg19128043
hg18128043
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5976n100
Supporting Variantsnssv3657545, nssv3657546
Samples
Known GenesGUSBP4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1024304
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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