A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14247642



Internal ID21310627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196832943..196840786hg38UCSC Ensembl
Outerchr1:196832942..196843377hg38UCSC Ensembl
Innerchr1:196802073..196809916hg19UCSC Ensembl
Outerchr1:196802072..196812507hg19UCSC Ensembl
Innerchr1:195068696..195076539hg18UCSC Ensembl
Outerchr1:195068695..195079130hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3810436
hg1910436
hg1810436
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170002
Supporting Variants
SamplesNGO_9
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14247642
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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