A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6916



Internal ID15205187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:56527462..56572321hg38UCSC Ensembl
OuterchrX:56553895..56598754hg19UCSC Ensembl
OuterchrX:56570620..56615479hg18UCSC Ensembl
OuterchrX:56436916..56481775hg17UCSC Ensembl
CytobandXp11.1
Allele length
AssemblyAllele length
hg3844860
hg1944860
hg1844860
hg1744860
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8728
SamplesNA12156
Known GenesUBQLN2
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)nsv6916
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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