A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2481528



Internal ID17431193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:140453246..140456864hg38UCSC Ensembl
Innerchr7:140153046..140156664hg19UCSC Ensembl
Innerchr7:139799515..139803133hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg383619
hg193619
hg183619
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966896
Supporting Variants
SamplesHGDP00665
Known GenesMKRN1
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)nssv2481528
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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