A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv712637



Internal ID16006593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:40561077..40566387hg38UCSC Ensembl
Innerchr1:41026749..41032059hg19UCSC Ensembl
Innerchr1:40799336..40804646hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg385311
hg195311
hg185311
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546088
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv712637
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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