A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14247694



Internal ID21310159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:57045536..57087832hg38UCSC Ensembl
Outerchr6:57044567..57094865hg38UCSC Ensembl
Innerchr6:56910334..56952630hg19UCSC Ensembl
Outerchr6:56909365..56959663hg19UCSC Ensembl
Innerchr6:57018293..57060589hg18UCSC Ensembl
Outerchr6:57017324..57067622hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3850299
hg1950299
hg1850299
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170021
Supporting Variants
SamplesNGO_55
Known GenesKIAA1586, ZNF451
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14247694
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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