A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997605



Internal ID18810455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16561560..16766910hg38UCSC Ensembl
Innerchr1:16888055..17093405hg19UCSC Ensembl
Innerchr1:16760642..16965992hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38205351
hg19205351
hg18205351
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv45n100
Supporting Variantsnssv3698867
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)nsv997605
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