A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1076264



Internal ID19324032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:73002560..73003661hg38UCSC Ensembl
chrX:72222399..72223500hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg381102
hg191102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3762810
SamplesKWP1
Known GenesPABPC1L2B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1076264
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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