A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545994



Internal ID15986717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:36147779..36244437hg38UCSC Ensembl
Innerchr1:36613380..36710038hg19UCSC Ensembl
Innerchr1:36385967..36482625hg18UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3896659
hg1996659
hg1896659
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv712322, nssv712321
Samples
Known GenesMAP7D1, THRAP3, TRAPPC3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545994
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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