A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006436



Internal ID18748967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16544771..16643019hg38UCSC Ensembl
Innerchr1:16871266..16969514hg19UCSC Ensembl
Innerchr1:16743853..16842101hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3898249
hg1998249
hg1898249
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv47n100
Supporting Variantsnssv3478913, nssv3470452
Samples
Known GenesCROCCP2, MIR3675, NBPF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006436
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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