A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571628



Internal ID16012351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21563897..21728953hg38UCSC Ensembl
Innerchr16:21575218..21740274hg19UCSC Ensembl
Innerchr16:21482719..21647775hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38165057
hg19165057
hg18165057
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4946n54
Supporting Variantsnssv1149629, nssv1149624, nssv853099, nssv1149625, nssv1149627, nssv853098, nssv1149626, nssv1149628, nssv853100, nssv853097
SamplesNINDS_116, 1780862399_A, 1780854129_A, 1780862001_A, 1782681142_A, 1780854463_A
Known GenesIGSF6, METTL9, OTOA
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571628
Frequency
Sample Size17421
Observed Gain4
Observed Loss6
Observed Complex0
Frequencyn/a


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