A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7117



Internal ID15552094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:139866698..139900391hg38UCSC Ensembl
OuterchrX:138948857..138982550hg19UCSC Ensembl
OuterchrX:138776523..138810216hg18UCSC Ensembl
OuterchrX:138674377..138708070hg17UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg387302
hg197302
hg187302
hg177302
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv917
SamplesNA19240
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)nsv7117
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