A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117545



Internal ID21300811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:29581953..29590784hg38UCSC Ensembl
InnerchrX:29600070..29608901hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg388832
hg198832
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1261n145
Supporting Variantsnssv14104026, nssv14101809, nssv14105025, nssv14105081, nssv14104978, nssv14101674, nssv14104142, nssv14105018, nssv14104139
Samplessample154, sample182, sample84, sample289, sample3, sample82, sample186, sample231, sample393
Known GenesIL1RAPL1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117545
Frequency
Sample Size467
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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