A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517569



Internal ID15098176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:73837862..74685802hg38UCSC Ensembl
Innerchr17:71834001..72681941hg19UCSC Ensembl
Innerchr17:69345596..70193536hg18UCSC Ensembl
Innerchr17:69345596..70193536hg17UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38847941
hg19847941
hg18847941
hg17847941
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699066, nssv652821, nssv706041, nssv652394, nssv703507
Samples
Known GenesBTBD17, C17orf77, CD300A, CD300C, CD300E, CD300LB, CD300LD, DNAI2, GPR142, GPRC5C, KIF19, MGC16275, RAB37, RPL38, TTYH2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517569
Frequency
Sample Size2026
Observed Gain2
Observed Loss3
Observed Complex0
Frequencyn/a


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