A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv712875



Internal ID15660145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:43990442..44000934hg38UCSC Ensembl
Innerchr1:44456114..44466606hg19UCSC Ensembl
Innerchr1:44228701..44239193hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3810493
hg1910493
hg1810493
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546142
Supporting Variants
Samples
Known GenesB4GALT2, CCDC24, SLC6A9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv712875
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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