A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3580835



Internal ID18879116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130159287..130271878hg38UCSC Ensembl
Innerchr2:130916860..131029451hg19UCSC Ensembl
Innerchr2:130633330..130745921hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38112592
hg19112592
hg18112592
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1008970
Supporting Variants
Samples
Known GenesMZT2B, SMPD4, TUBA3E
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3580835
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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