A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012519



Internal ID18755052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16559628..16956580hg38UCSC Ensembl
Innerchr1:16886123..17283075hg19UCSC Ensembl
Innerchr1:16758710..17155662hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38396953
hg19396953
hg18396953
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv39n100
Supporting Variantsnssv3476116, nssv3479853
Samples
Known GenesCROCC, CROCCP2, 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)nsv1012519
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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