A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3730857



Internal ID18682452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:64112773..64537637hg38UCSC Ensembl
Innerchr2:64339907..64764771hg19UCSC Ensembl
Innerchr2:64193411..64618275hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38424865
hg19424865
hg18424865
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1006553
Supporting Variants
Samples
Known GenesAFTPH, LGALSL, LINC00309, MIR4434, PELI1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3730857
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