A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013995



Internal ID18756527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16544771..16891400hg38UCSC Ensembl
Innerchr1:16871266..17217895hg19UCSC Ensembl
Innerchr1:16743853..17090482hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38346630
hg19346630
hg18346630
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv39n100
Supporting Variantsnssv3472985, nssv3464668
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)nsv1013995
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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