A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14245824



Internal ID21304922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152643010..152670930hg38UCSC Ensembl
Outerchr1:152641503..152675436hg38UCSC Ensembl
Innerchr1:152615486..152643406hg19UCSC Ensembl
Outerchr1:152613979..152647912hg19UCSC Ensembl
Innerchr1:150882110..150910030hg18UCSC Ensembl
Outerchr1:150880603..150914536hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3833934
hg1933934
hg1833934
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169560
Supporting Variants
SamplesNGO_17
Known GenesLCE2C, LCE2D
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14245824
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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