A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058031



Internal ID18800562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41778258..41843183hg38UCSC Ensembl
Innerchr17:39934510..39999435hg19UCSC Ensembl
Innerchr17:37188036..37252961hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3864926
hg1964926
hg1864926
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3174n100
Supporting Variantsnssv3545111
Samples
Known GenesFKBP10, JUP, KLHL10, LEPREL4, NT5C3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058031
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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