A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1145286



Internal ID18903507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:19476682..19478882hg38UCSC Ensembl
OuterchrX:19494800..19497000hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg382201
hg192201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3982374
SamplesKWS1
Known GenesMAP3K15
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1145286
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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