A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4002305



Internal ID19187365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:10716459..10721360hg38UCSC Ensembl
OuterchrX:10684499..10689400hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg384902
hg194902
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153653
Supporting Variants
SamplesKWB1
Known GenesMID1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4002305
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