A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1173653



Internal ID15534618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6413234..6504096hg38UCSC Ensembl
Innerchr1:6473294..6564156hg19UCSC Ensembl
Innerchr1:6395881..6486743hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg3890863
hg1990863
hg1890863
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv545262
Supporting Variants
SamplesNINDS_98
Known GenesESPN, HES2, MIR4252, PLEKHG5, TNFRSF25
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1173653
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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