A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8725



Internal ID15188453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:53412544..53446505hg38UCSC Ensembl
OuterchrX:53439494..53473453hg19UCSC Ensembl
OuterchrX:53456219..53490178hg18UCSC Ensembl
OuterchrX:53322515..53356474hg17UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg385481
hg195481
hg185481
hg175481
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6908
Supporting Variants
SamplesNA12156
Known GenesHSD17B10, MIR5684, RIBC1, SMC1A
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)nssv8725
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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