A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005491



Internal ID18748022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16544771..16898860hg38UCSC Ensembl
Innerchr1:16871266..17225355hg19UCSC Ensembl
Innerchr1:16743853..17097942hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38354090
hg19354090
hg18354090
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv39n100
Supporting Variantsnssv3473685
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)nsv1005491
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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