A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6803



Internal ID15551749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:12499335..12544694hg38UCSC Ensembl
OuterchrX:12517454..12562813hg19UCSC Ensembl
OuterchrX:12427375..12472734hg18UCSC Ensembl
OuterchrX:12277111..12322470hg17UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3845360
hg1945360
hg1845360
hg1745360
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6309
SamplesNA12156
Known GenesFRMPD4
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)nsv6803
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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