A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1015127



Internal ID18757662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16544771..16915859hg38UCSC Ensembl
Innerchr1:16871266..17242354hg19UCSC Ensembl
Innerchr1:16743853..17114941hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38371089
hg19371089
hg18371089
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv39n100
Supporting Variantsnssv3478824
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)nsv1015127
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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