A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545731



Internal ID15986454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:19989106..20776306hg38UCSC Ensembl
Innerchr1:20315599..21102799hg19UCSC Ensembl
Innerchr1:20188186..20975386hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38787201
hg19787201
hg18787201
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv711285
Samples
Known GenesCAMK2N1, CDA, DDOST, FAM43B, HP1BP3, KIF17, LINC01141, MIR6084, MUL1, PINK1, PLA2G2C, PLA2G2D, PLA2G2F, PLA2G5, SH2D5, UBXN10, VWA5B1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545731
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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