A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3995056



Internal ID18874922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:17860680..17861680hg38UCSC Ensembl
OuterchrX:17878800..17879800hg19UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1144318
Supporting Variants
SamplesKWS1
Known GenesRAI2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3995056
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