A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133014



Internal ID18920923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:6312430..9433891hg38UCSC Ensembl
Outerchr6:6312663..9434124hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg383121462
hg193121462
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3987811
SamplesKWS1
Known GenesBLOC1S5, BLOC1S5-TXNDC5, BMP6, CAGE1, DSP, EEF1E1, EEF1E1-BLOC1S5, F13A1, HULC, LOC100506207, LY86, LY86-AS1, PIP5K1P1, RIOK1, RREB1, SCARNA27, SLC35B3, SNRNP48, SSR1, TXNDC5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133014
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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