A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14246961



Internal ID21306158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41376617..41401814hg38UCSC Ensembl
Outerchr17:41372886..41403287hg38UCSC Ensembl
Innerchr17:39532869..39558066hg19UCSC Ensembl
Outerchr17:39529138..39559539hg19UCSC Ensembl
Innerchr17:36786395..36811592hg18UCSC Ensembl
Outerchr17:36782664..36813065hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3830402
hg1930402
hg1830402
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169777
Supporting Variants
SamplesNGO_25
Known GenesKRT31, KRT34, LOC100505782
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14246961
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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