A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6786



Internal ID15205044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:7886158..7916141hg38UCSC Ensembl
OuterchrX:7854199..7884182hg19UCSC Ensembl
OuterchrX:7814199..7844182hg18UCSC Ensembl
OuterchrX:7663935..7693918hg17UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg3810042
hg1910042
hg1810042
hg1710042
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1825
SamplesNA18555
Known GenesPNPLA4
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)nsv6786
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