A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516675



Internal ID15097282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:75494613..75538114hg38UCSC Ensembl
Innerchr16:75528511..75572012hg19UCSC Ensembl
Innerchr16:74086012..74129513hg18UCSC Ensembl
Innerchr16:74086012..74129513hg17UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3843502
hg1943502
hg1843502
hg1743502
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv658429, nssv687749, nssv696328, nssv690444, nssv681159, nssv676531, nssv694894, nssv670094, nssv654519, nssv671774, nssv702681, nssv694271
Samples
Known GenesCHST5, CHST6
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516675
Frequency
Sample Size2026
Observed Gain11
Observed Loss1
Observed Complex0
Frequencyn/a


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