A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6306



Internal ID15537557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:5044672..5048221hg38UCSC Ensembl
OuterchrX:4962713..4966262hg19UCSC Ensembl
OuterchrX:4972713..4976262hg18UCSC Ensembl
OuterchrX:4822449..4825998hg17UCSC Ensembl
CytobandXp22.32
Allele length
AssemblyAllele length
hg389549
hg199549
hg189549
hg179549
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv6782
Supporting Variants
SamplesNA12156
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)nssv6306
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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