A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700472



Internal ID15437124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:29177561..29200585hg38UCSC Ensembl
InnerchrX:29195678..29218702hg19UCSC Ensembl
InnerchrX:29105599..29128623hg18UCSC Ensembl
InnerchrX:28955335..28978359hg17UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg3823025
hg1923025
hg1823025
hg1723025
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516364
Supporting Variants
Samples
Known GenesIL1RAPL1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700472
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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