A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv682723



Internal ID15419375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:28931644..29356165hg38UCSC Ensembl
InnerchrX:28949761..29374282hg19UCSC Ensembl
InnerchrX:28859682..29284203hg18UCSC Ensembl
InnerchrX:28709418..29133939hg17UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg38424522
hg19424522
hg18424522
hg17424522
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)nssv682723
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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