A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1929483



Internal ID17869116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52361693..52365913hg38UCSC Ensembl
Innerchr12:52755477..52759697hg19UCSC Ensembl
Innerchr12:51041744..51045964hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg384221
hg194221
hg184221
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976618
Supporting Variants
SamplesHGDP01284
Known GenesKRT85
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1929483
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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