A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6995



Internal ID15551960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:94604839..94637941hg38UCSC Ensembl
OuterchrX:93859838..93892940hg19UCSC Ensembl
OuterchrX:93746494..93779596hg18UCSC Ensembl
OuterchrX:93665983..93699085hg17UCSC Ensembl
CytobandXq21.33
Allele length
AssemblyAllele length
hg386170
hg196170
hg186170
hg176170
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5237
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)nsv6995
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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