A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048175



Internal ID19137394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:31556967..31640813hg38UCSC Ensembl
Innerchr11:31578514..31662361hg19UCSC Ensembl
Innerchr11:31535090..31618937hg18UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg3883847
hg1983848
hg1883848
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1089n100
Supporting Variantsnssv3510655
Samples
Known GenesELP4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048175
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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