A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3749521



Internal ID18701116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:122705932..122750905hg38UCSC Ensembl
Innerchr6:123027077..123072050hg19UCSC Ensembl
Innerchr6:123068776..123113749hg18UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3844974
hg1944974
hg1844974
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1027182
Supporting Variants
Samples
Known GenesPKIB
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3749521
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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