A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056093



Internal ID19145312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41348341..41366231hg38UCSC Ensembl
Innerchr17:39504593..39522483hg19UCSC Ensembl
Innerchr17:36758119..36776009hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3817891
hg1917891
hg1817891
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3171n100
Supporting Variantsnssv3544200, nssv3544191, nssv3544199, nssv3544204, nssv3544197, nssv3544203, nssv3544194, nssv3544195, nssv3544196, nssv3544192, nssv3544193, nssv3544202, nssv3544198, nssv3544201
Samples
Known GenesKRT33A, KRT33B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056093
Frequency
Sample Size11257
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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