A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6943



Internal ID15205217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:68637870..68674421hg38UCSC Ensembl
OuterchrX:67857712..67894263hg19UCSC Ensembl
OuterchrX:67774437..67810988hg18UCSC Ensembl
OuterchrX:67640733..67677284hg17UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg385545
hg195545
hg185545
hg175545
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv882, nssv2833
SamplesNA18555, NA19240
Known GenesSTARD8
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)nsv6943
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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