A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7027



Internal ID15205309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:107201270..107233386hg38UCSC Ensembl
OuterchrX:106444500..106476616hg19UCSC Ensembl
OuterchrX:106331156..106363272hg18UCSC Ensembl
OuterchrX:106250645..106282761hg17UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg387888
hg197888
hg187888
hg177888
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1855
SamplesNA18555
Known GenesNUP62CL, PIH1D3
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)nsv7027
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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