A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008435



Internal ID18750966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16691023..16997938hg38UCSC Ensembl
Innerchr1:17017518..17324433hg19UCSC Ensembl
Innerchr1:16890105..17197020hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38306916
hg19306916
hg18306916
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv92n100
Supporting Variantsnssv3477425
Samples
Known GenesATP13A2, CROCC, ESPNP, LOC729574, MFAP2, MIR3675, MST1L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008435
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