A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6980



Internal ID15551944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:82721722..82736177hg38UCSC Ensembl
OuterchrX:81977171..81991626hg19UCSC Ensembl
OuterchrX:81863827..81878282hg18UCSC Ensembl
OuterchrX:81783316..81797771hg17UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3814456
hg1914456
hg1814456
hg1714456
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3805
SamplesNA12878
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)nsv6980
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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