A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999605



Internal ID18812455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16583102..16851458hg38UCSC Ensembl
Innerchr1:16909597..17177953hg19UCSC Ensembl
Innerchr1:16782184..17050540hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38268357
hg19268357
hg18268357
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv54n100
Supporting Variantsnssv3698878, nssv3478727
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)nsv999605
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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