A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003903



Internal ID18846323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:6312428..9433916hg38UCSC Ensembl
Outerchr6:6312661..9434149hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg383121489
hg193121489
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151332
Supporting Variants
SamplesKWB1
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
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003903
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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