A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019990



Internal ID19109209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12305218..12389965hg38UCSC Ensembl
Innerchr8:12162727..12247474hg19UCSC Ensembl
Innerchr8:12207096..12291845hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3884748
hg1984748
hg1884750
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7029n100
Supporting Variantsnssv3682013, nssv3682026, nssv3682019, nssv3754356, nssv3681999, nssv3682017, nssv3682024, nssv3682004, nssv3682000, nssv3682002, nssv3682012, nssv3682008, nssv3682022, nssv3682011, nssv3682020, nssv3682023, nssv3682001, nssv3682010, nssv3754357, nssv3682025, nssv3682005, nssv3682015, nssv3682014, nssv3682009, nssv3682021, nssv3682003, nssv3682007, nssv3682018, nssv3682006, nssv3682016, nssv3754355
Samples
Known GenesDEFB130, FAM66A, LOC100133267, LOC649352
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1019990
Frequency
Sample Size11257
Observed Gain29
Observed Loss2
Observed Complex0
Frequencyn/a


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