A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5768n54



Internal ID20139192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:73826016..74706775hg38UCSC Ensembl
chr17:71822155..72702914hg19UCSC Ensembl
chr17:69333750..70214509hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38880760
hg19880760
hg18880760
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv575989, nsv576001, nsv575998, nsv575992, nsv575993, nsv575990, nsv576002, nsv575995, nsv576000, nsv575994, nsv575991, nsv575996
SamplesNINDS_116, NINDS_131
Known GenesBTBD17, C17orf77, CD300A, CD300C, CD300E, CD300LB, CD300LD, CD300LF, DNAI2, GPR142, GPRC5C, KIF19, LINC00469, MGC16275, RAB37, RPL38, TTYH2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5768n54
Frequency
Sample Size17421
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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