A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008071



Internal ID18750602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:5892183..6084478hg38UCSC Ensembl
Innerchr1:5952243..6144538hg19UCSC Ensembl
Innerchr1:5874830..6067125hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38192296
hg19192296
hg18192296
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3696763
Samples
Known GenesKCNAB2, NPHP4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008071
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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