A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011167



Internal ID18753701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16641618..16921891hg38UCSC Ensembl
Innerchr1:16968113..17248386hg19UCSC Ensembl
Innerchr1:16840700..17120973hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38280274
hg19280274
hg18280274
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv63n100
Supporting Variantsnssv3698905
Samples
Known GenesESPNP, LOC729574, MIR3675, MST1L, MST1P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011167
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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