A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3002476



Internal ID16948742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:19452155..19452322hg38UCSC Ensembl
OuterchrX:19470273..19470440hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv957810
Supporting Variants
SamplesBILGI_BIOE
Known GenesMAP3K15
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3002476
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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