A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1173683



Internal ID15507621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12775725..12854043hg38UCSC Ensembl
Innerchr1:12835868..12913896hg19UCSC Ensembl
Innerchr1:12758455..12836483hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3878319
hg1978029
hg1878029
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv545452
Supporting Variants
Samples1780862077_A
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF11, PRAMEF12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1173683
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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