A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547683



Internal ID16335092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:120898442..120914287hg38UCSC Ensembl
Innerchr1:147930379..147946732hg19UCSC Ensembl
Innerchr1:146397003..146413356hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3815846
hg1916354
hg1816354
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv723089
Samples
Known GenesLINC01138, NBPF10, NBPF8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547683
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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