A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056788



Internal ID18799319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:74922211..75028689hg38UCSC Ensembl
Innerchr17:72918306..73024784hg19UCSC Ensembl
Innerchr17:70429901..70536379hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38106479
hg19106479
hg18106479
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3567805
Samples
Known GenesCDR2L, HID1, ICT1, OTOP2, OTOP3, USH1G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056788
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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