A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7044



Internal ID15552014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:114651746..114696129hg38UCSC Ensembl
OuterchrX:113886221..113930561hg19UCSC Ensembl
OuterchrX:113792477..113836817hg18UCSC Ensembl
OuterchrX:113709201..113753541hg17UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg3844384
hg1944341
hg1844341
hg1744341
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1857
SamplesNA18555
Known GenesHTR2C, MIR1264
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)nsv7044
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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