A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6780



Internal ID8518706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:3630643..3656591hg38UCSC Ensembl
OuterchrX:3548684..3574632hg19UCSC Ensembl
OuterchrX:3558684..3584632hg18UCSC Ensembl
OuterchrX:3542045..3567993hg17UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3811831
hg1911831
hg1811831
hg1711831
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1819, nssv6305
SamplesNA12156, NA18555
Known GenesPRKX
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)nsv6780
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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