A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012657



Internal ID18755189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:60299584..61316101hg38UCSC Ensembl
Innerchr1:60765256..61781773hg19UCSC Ensembl
Innerchr1:60537844..61554361hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381016518
hg191016518
hg181016518
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3473444
Samples
Known GenesLOC645030, NFIA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012657
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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