A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999030



Internal ID19158566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:89938380..90031572hg38UCSC Ensembl
Innerchr4:90859531..90952723hg19UCSC Ensembl
Innerchr4:91078554..91171746hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3893193
hg1993193
hg1893193
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5336n100
Supporting Variantsnssv3742884
Samples
Known GenesMMRN1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999030
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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