A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14249611



Internal ID21312872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195683075..195729177hg38UCSC Ensembl
Outerchr3:195673928..195730018hg38UCSC Ensembl
Innerchr3:195409946..195456048hg19UCSC Ensembl
Outerchr3:195400799..195456889hg19UCSC Ensembl
Innerchr3:196895127..196941719hg18UCSC Ensembl
Outerchr3:196885980..196942560hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3856091
hg1956091
hg1856581
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169535
Supporting Variants
SamplesSNI_5
Known GenesMIR570, MUC20, SDHAP2
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14249611
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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