A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2485687



Internal ID17803680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144434201..144435457hg38UCSC Ensembl
Innerchr7:144131294..144132550hg19UCSC Ensembl
Innerchr7:143762227..143763483hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381257
hg191257
hg181257
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966904
Supporting Variants
SamplesHGDP00778
Known Genes
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)nssv2485687
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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