A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999310



Internal ID18843751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:67048074..72779443hg38UCSC Ensembl
Outerchr7:66513061..72244453hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg385731370
hg195731393
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1146102
Supporting Variants
SamplesKWB1
Known GenesAUTS2, CALN1, LOC100507468, LOC101929736, MIR3914-1, MIR3914-2, MIR4650-1, MIR4650-2, PMS2P4, STAG3L4, TYW1, TYW1B, WBSCR17
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999310
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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