A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1110891



Internal ID18931740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:6572501..6572600hg38UCSC Ensembl
Outerchr12:6681667..6681766hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961305
SamplesKWS1
Known GenesCHD4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1110891
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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