A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695819



Internal ID15085785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:119301240..119460459hg38UCSC Ensembl
InnerchrX:118435203..118594422hg19UCSC Ensembl
InnerchrX:118319231..118478450hg18UCSC Ensembl
InnerchrX:118217085..118376304hg17UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38159220
hg19159220
hg18159220
hg17159220
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518389
Supporting Variants
Samples
Known GenesSLC25A43
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695819
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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