A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546112



Internal ID16333521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:43198448..43230037hg38UCSC Ensembl
Innerchr1:43664119..43695708hg19UCSC Ensembl
Innerchr1:43436706..43468295hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3831590
hg1931590
hg1831590
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173840
Samples1780854205_A
Known GenesWDR65
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546112
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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