A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057782



Internal ID18800313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:1351585..1512616hg38UCSC Ensembl
Innerchr17:1254879..1415910hg19UCSC Ensembl
Innerchr17:1201629..1362660hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38161032
hg19161032
hg18161032
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3560070
Samples
Known GenesCRK, INPP5K, MYO1C, YWHAE
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057782
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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