A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997565



Internal ID18810415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16544771..16762842hg38UCSC Ensembl
Innerchr1:16871266..17089337hg19UCSC Ensembl
Innerchr1:16743853..16961924hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38218072
hg19218072
hg18218072
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv45n100
Supporting Variantsnssv3463823
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)nsv997565
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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