A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6997



Internal ID15551962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:96031392..96072249hg38UCSC Ensembl
OuterchrX:95286391..95327248hg19UCSC Ensembl
OuterchrX:95173047..95213904hg18UCSC Ensembl
OuterchrX:95092536..95133393hg17UCSC Ensembl
CytobandXq21.33
Allele length
AssemblyAllele length
hg3840858
hg1940858
hg1840858
hg1740858
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv893, nssv3811, nssv6354, nssv5240
SamplesNA12156, NA12878, NA19240, NA19129
Known GenesMIR548AE1
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)nsv6997
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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