A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3966743



Internal ID19222054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:169029711..169030038hg38UCSC Ensembl
Outerchr2:169886221..169886548hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1112633
Supporting Variants
SamplesKWS1
Known GenesABCB11
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3966743
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer