A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3817



Internal ID15191858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:103970414..104117650hg38UCSC Ensembl
OuterchrX:103224999..103362341hg19UCSC Ensembl
OuterchrX:103111655..103248997hg18UCSC Ensembl
OuterchrX:103031144..103168486hg17UCSC Ensembl
CytobandXq22.2
Allele length
AssemblyAllele length
hg38147237
hg19137343
hg18137343
hg17137343
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7453
Supporting Variants
SamplesNA12878
Known GenesH2BFM, H2BFWT, H2BFXP, MIR1256, SLC25A53, ZCCHC18
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)nssv3817
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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