A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023173



Internal ID19112390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32480352..32562509hg38UCSC Ensembl
Innerchr6:32448129..32530286hg19UCSC Ensembl
Innerchr6:32556107..32638264hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3882158
hg1982158
hg1882158
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5949n100
Supporting Variantsnssv3655949, nssv3745377, nssv3655942, nssv3655941, nssv3655953, nssv3745376, nssv3655944, nssv3655945, nssv3655950, nssv3655948, nssv3655954, nssv3655955, nssv3655940, nssv3655943, nssv3655947, nssv3655951, nssv3655952, nssv3655946
Samples
Known GenesHLA-DRB5, HLA-DRB6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1023173
Frequency
Sample Size11257
Observed Gain12
Observed Loss6
Observed Complex0
Frequencyn/a


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