A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3961305



Internal ID18871588
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 StatusS
Merged Variantsnsv1110891
Supporting Variants
SamplesKWS1
Known GenesCHD4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3961305
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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