A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055697



Internal ID18798228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:75501462..75542099hg38UCSC Ensembl
Innerchr16:75535360..75575997hg19UCSC Ensembl
Innerchr16:74092861..74133498hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3840638
hg1940638
hg1840638
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3020n100
Supporting Variantsnssv3719036, nssv3559600, nssv3559598, nssv3559599
Samples
Known GenesCHST5, TMEM231
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055697
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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