A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1152597



Internal ID19199438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1447406..1450307hg38UCSC Ensembl
OuterchrX:1566299..1569200hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg382902
hg192902
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3999778
SamplesKWB1
Known GenesASMTL
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1152597
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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