A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993471



Internal ID19232910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:177616942..177617041hg38UCSC Ensembl
Outerchr2:178481670..178481769hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141961
Supporting Variants
SamplesKWS2
Known GenesTTC30A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993471
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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