A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515870



Internal ID15442927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:30432017..30673001hg38UCSC Ensembl
Innerchr17:28759035..29000019hg19UCSC Ensembl
Innerchr17:25783161..26024145hg18UCSC Ensembl
Innerchr17:25783161..26024145hg17UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38240985
hg19240985
hg18240985
hg17240985
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv663780, nssv678369, nssv665095
Samples
Known GenesCPD, GOSR1, LRRC37BP1, SH3GL1P2, TBC1D29
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515870
Frequency
Sample Size2026
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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