A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8716



Internal ID15188462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:45865344..45884684hg38UCSC Ensembl
OuterchrX:45724779..45744119hg19UCSC Ensembl
OuterchrX:45609723..45629063hg18UCSC Ensembl
OuterchrX:45481033..45500373hg17UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg387094
hg197094
hg187094
hg177094
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6883
Supporting Variants
SamplesNA12156
Known Genes
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv8716
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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