A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545627



Internal ID15986350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16000927..16047835hg38UCSC Ensembl
Innerchr1:16327422..16374330hg19UCSC Ensembl
Innerchr1:16200009..16246917hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3846909
hg1946909
hg1846909
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv710806
Samples
Known GenesC1orf64, CLCNKA, CLCNKB, HSPB7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545627
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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