A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv925



Internal ID15544943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:147282520..147302582hg38UCSC Ensembl
OuterchrX:146364038..146384100hg19UCSC Ensembl
OuterchrX:146171730..146191792hg18UCSC Ensembl
OuterchrX:146069584..146089646hg17UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg386323
hg196323
hg186323
hg176323
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7138
Supporting Variants
SamplesNA19240
Known GenesMIR514A2, MIR514A3
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)nssv925
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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