A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4249n106



Internal ID22798077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:64296820..64302920hg38UCSC Ensembl
chrX:63516700..63522800hg19UCSC Ensembl
CytobandXq11.2
Allele length
AssemblyAllele length
hg386101
hg196101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1140034, nsv1110607
SamplesKWS2, KWS1
Known GenesMTMR8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv4249n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer