A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515623



Internal ID15096230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54102901..54179150hg38UCSC Ensembl
Innerchr19:54606209..54682867hg19UCSC Ensembl
Innerchr19:59298021..59374679hg18UCSC Ensembl
Innerchr19:59298021..59374679hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3876250
hg1976659
hg1876659
hg1776659
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv664142, nssv672240, nssv655362
Samples
Known GenesCNOT3, LENG1, MBOAT7, NDUFA3, PRPF31, TFPT, TMC4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515623
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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