A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5211



Internal ID15544030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:40862867..40894200hg38UCSC Ensembl
OuterchrX:40722120..40753453hg19UCSC Ensembl
OuterchrX:40607064..40638397hg18UCSC Ensembl
OuterchrX:40478374..40509707hg17UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg387942
hg197942
hg187942
hg177942
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6872
Supporting Variants
SamplesNA19129
Known Genes
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)nssv5211
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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