A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7442



Internal ID15205766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:49119846..49205921hg38UCSC Ensembl
OuterchrX:48976199..49062381hg19UCSC Ensembl
OuterchrX:48863143..48949325hg18UCSC Ensembl
OuterchrX:48732448..48818752hg17UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3886076
hg1986183
hg1886183
hg1786305
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10703, nssv11215, nssv3784, nssv11216, nssv5221, nssv10704, nssv865, nssv6327
SamplesNA12156, NA12878, NA18956, NA15510, NA19240, NA19129
Known GenesCACNA1F, GPKOW, MAGIX, PLP2, PRICKLE3, SYP
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)nsv7442
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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