A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2638422



Internal ID17534709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:29513466..29531888hg38UCSC Ensembl
Innerchr16:29524787..29543209hg19UCSC Ensembl
Innerchr16:29432288..29450710hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3818423
hg1918423
hg1818423
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978058
Supporting Variants
SamplesHGDP01307
Known GenesLOC440354
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2638422
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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