A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055479



Internal ID19144698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:34567128..34585073hg38UCSC Ensembl
Innerchr17:32894147..32912092hg19UCSC Ensembl
Innerchr17:29918260..29936205hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3817946
hg1917946
hg1817946
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3561068
Samples
Known GenesC17orf102, TMEM132E
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055479
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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