A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011340



Internal ID18753874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16583102..16679269hg38UCSC Ensembl
Innerchr1:16909597..17005764hg19UCSC Ensembl
Innerchr1:16782184..16878351hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3896168
hg1996168
hg1896168
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv59n100
Supporting Variantsnssv3479440, nssv3468352
Samples
Known GenesCROCCP2, LOC729574, 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)nsv1011340
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