A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005327



Internal ID18747858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16544771..16685949hg38UCSC Ensembl
Innerchr1:16871266..17012444hg19UCSC Ensembl
Innerchr1:16743853..16885031hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38141179
hg19141179
hg18141179
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv50n100
Supporting Variantsnssv3473504
Samples
Known GenesCROCCP2, LOC729574, MIR3675, 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)nsv1005327
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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