A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020375



Internal ID19109594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:131369169..131424837hg38UCSC Ensembl
Innerchr7:131053928..131109596hg19UCSC Ensembl
Innerchr7:130704468..130760136hg18UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg3855669
hg1955669
hg1855669
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6620n100
Supporting Variantsnssv3662199
Samples
Known GenesMKLN1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020375
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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