A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3462923



Internal ID18713206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16544771..16756084hg38UCSC Ensembl
Innerchr1:16871266..17082579hg19UCSC Ensembl
Innerchr1:16743853..16955166hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38211314
hg19211314
hg18211314
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1007961
Supporting Variants
Samples
Known GenesCROCCP2, ESPNP, LOC729574, MIR3675, MST1L, MST1P2, NBPF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3462923
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