A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv712323



Internal ID15659593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:36150068..36286809hg38UCSC Ensembl
Innerchr1:36615669..36752410hg19UCSC Ensembl
Innerchr1:36388256..36524997hg18UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38136742
hg19136742
hg18136742
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv545995
Supporting Variants
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)nssv712323
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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