A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1767915



Internal ID17390612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:52994822..52995928hg38UCSC Ensembl
Innerchr1:53460494..53461600hg19UCSC Ensembl
Innerchr1:53233082..53234188hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381107
hg191107
hg181107
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945953
Supporting Variants
SamplesHGDP00456
Known GenesSCP2
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)nssv1767915
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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