A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999217



Internal ID19158753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:216327457..216382459hg38UCSC Ensembl
Innerchr2:217192180..217247182hg19UCSC Ensembl
Innerchr2:216900425..216955427hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3855003
hg1955003
hg1855003
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3586807
Samples
Known GenesMARCH4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999217
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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