A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6894



Internal ID15205163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:48905589..48937839hg38UCSC Ensembl
OuterchrX:48762866..48795110hg19UCSC Ensembl
OuterchrX:48647810..48680054hg18UCSC Ensembl
OuterchrX:48519114..48551358hg17UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg385872
hg195872
hg185872
hg175872
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3783
SamplesNA12878
Known GenesOTUD5, PIM2, SLC35A2
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)nsv6894
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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