A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7007



Internal ID15205287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:100226294..100297292hg38UCSC Ensembl
OuterchrX:99481292..99552290hg19UCSC Ensembl
OuterchrX:99367948..99438946hg18UCSC Ensembl
OuterchrX:99287437..99358435hg17UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg3870999
hg1970999
hg1870999
hg1770999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1850, nssv8754
SamplesNA12156, NA18555
Known GenesPCDH19
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)nsv7007
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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