A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055524



Internal ID18798055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46085720..46135838hg38UCSC Ensembl
Innerchr17:44163086..44213204hg19UCSC Ensembl
Innerchr17:41518904..41568981hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3850119
hg1950119
hg1850078
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3183n100
Supporting Variantsnssv3546067
Samples
Known GenesKANSL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055524
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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