A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057589



Internal ID18800120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:82815790..82852057hg38UCSC Ensembl
Innerchr17:80773666..80809933hg19UCSC Ensembl
Innerchr17:78366955..78403222hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3836268
hg1936268
hg1836268
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3567899, nssv3567900
Samples
Known GenesTBCD, ZNF750
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057589
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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