A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7138



Internal ID15552117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:147262855..147302582hg38UCSC Ensembl
OuterchrX:146344373..146384100hg19UCSC Ensembl
OuterchrX:146152065..146191792hg18UCSC Ensembl
OuterchrX:146049919..146089646hg17UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg389197
hg199197
hg189197
hg179197
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5265, nssv925, nssv2842, nssv11228
SamplesNA15510, NA18555, NA19240, NA19129
Known GenesMIR510, MIR514A1, MIR514A2, MIR514A3
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)nsv7138
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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