A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6847



Internal ID15551797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:30775694..30791363hg38UCSC Ensembl
OuterchrX:30793811..30809480hg19UCSC Ensembl
OuterchrX:30703732..30719401hg18UCSC Ensembl
OuterchrX:30553468..30569137hg17UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg386690
hg196690
hg186690
hg176690
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5208
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)nsv6847
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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